Achondroplasia - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

ACHONDROPLASIA A M EDICAL D ICTIONARY , B IBLIOGRAPHY , AND A NNOTATED R ESEARCH G UIDE TO I NTERNET R E FERENCES

J AMES N. P ARKER , M.D. AND P HILIP M. P ARKER , P H .D., E DITORS

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ICON Health Publications ICON Group International, Inc. 4370 La Jolla Village Drive, 4th Floor San Diego, CA 92122 USA Copyright ©2004 by ICON Group International, Inc. Copyright ©2004 by ICON Group International, Inc. All rights reserved. This book is protected by copyright. No part of it may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, recording, or otherwise, without written permission from the publisher. Printed in the United States of America. Last digit indicates print number: 10 9 8 7 6 4 5 3 2 1

Publisher, Health Care: Philip Parker, Ph.D. Editor(s): James Parker, M.D., Philip Parker, Ph.D. Publisher's note: The ideas, procedures, and suggestions contained in this book are not intended for the diagnosis or treatment of a health problem. As new medical or scientific information becomes available from academic and clinical research, recommended treatments and drug therapies may undergo changes. The authors, editors, and publisher have attempted to make the information in this book up to date and accurate in accord with accepted standards at the time of publication. The authors, editors, and publisher are not responsible for errors or omissions or for consequences from application of the book, and make no warranty, expressed or implied, in regard to the contents of this book. Any practice described in this book should be applied by the reader in accordance with professional standards of care used in regard to the unique circumstances that may apply in each situation. The reader is advised to always check product information (package inserts) for changes and new information regarding dosage and contraindications before prescribing any drug or pharmacological product. Caution is especially urged when using new or infrequently ordered drugs, herbal remedies, vitamins and supplements, alternative therapies, complementary therapies and medicines, and integrative medical treatments. Cataloging-in-Publication Data Parker, James N., 1961Parker, Philip M., 1960Achondroplasia: A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References / James N. Parker and Philip M. Parker, editors p. cm. Includes bibliographical references, glossary, and index. ISBN: 0-597-84320-1 1. Achondroplasia-Popular works. I. Title.

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Disclaimer This publication is not intended to be used for the diagnosis or treatment of a health problem. It is sold with the understanding that the publisher, editors, and authors are not engaging in the rendering of medical, psychological, financial, legal, or other professional services. References to any entity, product, service, or source of information that may be contained in this publication should not be considered an endorsement, either direct or implied, by the publisher, editors, or authors. ICON Group International, Inc., the editors, and the authors are not responsible for the content of any Web pages or publications referenced in this publication.

Copyright Notice If a physician wishes to copy limited passages from this book for patient use, this right is automatically granted without written permission from ICON Group International, Inc. (ICON Group). However, all of ICON Group publications have copyrights. With exception to the above, copying our publications in whole or in part, for whatever reason, is a violation of copyright laws and can lead to penalties and fines. Should you want to copy tables, graphs, or other materials, please contact us to request permission (E-mail: [email protected]). ICON Group often grants permission for very limited reproduction of our publications for internal use, press releases, and academic research. Such reproduction requires confirmed permission from ICON Group International, Inc. The disclaimer above must accompany all reproductions, in whole or in part, of this book.

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Acknowledgements The collective knowledge generated from academic and applied research summarized in various references has been critical in the creation of this book which is best viewed as a comprehensive compilation and collection of information prepared by various official agencies which produce publications on achondroplasia. Books in this series draw from various agencies and institutions associated with the United States Department of Health and Human Services, and in particular, the Office of the Secretary of Health and Human Services (OS), the Administration for Children and Families (ACF), the Administration on Aging (AOA), the Agency for Healthcare Research and Quality (AHRQ), the Agency for Toxic Substances and Disease Registry (ATSDR), the Centers for Disease Control and Prevention (CDC), the Food and Drug Administration (FDA), the Healthcare Financing Administration (HCFA), the Health Resources and Services Administration (HRSA), the Indian Health Service (IHS), the institutions of the National Institutes of Health (NIH), the Program Support Center (PSC), and the Substance Abuse and Mental Health Services Administration (SAMHSA). In addition to these sources, information gathered from the National Library of Medicine, the United States Patent Office, the European Union, and their related organizations has been invaluable in the creation of this book. Some of the work represented was financially supported by the Research and Development Committee at INSEAD. This support is gratefully acknowledged. Finally, special thanks are owed to Tiffany Freeman for her excellent editorial support.

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About the Editors James N. Parker, M.D. Dr. James N. Parker received his Bachelor of Science degree in Psychobiology from the University of California, Riverside and his M.D. from the University of California, San Diego. In addition to authoring numerous research publications, he has lectured at various academic institutions. Dr. Parker is the medical editor for health books by ICON Health Publications. Philip M. Parker, Ph.D. Philip M. Parker is the Eli Lilly Chair Professor of Innovation, Business and Society at INSEAD (Fontainebleau, France and Singapore). Dr. Parker has also been Professor at the University of California, San Diego and has taught courses at Harvard University, the Hong Kong University of Science and Technology, the Massachusetts Institute of Technology, Stanford University, and UCLA. Dr. Parker is the associate editor for ICON Health Publications.

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About ICON Health Publications To discover more about ICON Health Publications, simply check with your preferred online booksellers, including Barnes&Noble.com and Amazon.com which currently carry all of our titles. Or, feel free to contact us directly for bulk purchases or institutional discounts: ICON Group International, Inc. 4370 La Jolla Village Drive, Fourth Floor San Diego, CA 92122 USA Fax: 858-546-4341 Web site: www.icongrouponline.com/health

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Table of Contents FORWARD .......................................................................................................................................... 1 CHAPTER 1. STUDIES ON ACHONDROPLASIA ................................................................................... 3 Overview........................................................................................................................................ 3 Federally Funded Research on Achondroplasia.............................................................................. 3 E-Journals: PubMed Central ....................................................................................................... 12 The National Library of Medicine: PubMed ................................................................................ 12 CHAPTER 2. NUTRITION AND ACHONDROPLASIA ......................................................................... 57 Overview...................................................................................................................................... 57 Finding Nutrition Studies on Achondroplasia ............................................................................ 57 Federal Resources on Nutrition ................................................................................................... 59 Additional Web Resources ........................................................................................................... 59 CHAPTER 3. ALTERNATIVE MEDICINE AND ACHONDROPLASIA ................................................... 61 Overview...................................................................................................................................... 61 National Center for Complementary and Alternative Medicine.................................................. 61 Additional Web Resources ........................................................................................................... 62 General References ....................................................................................................................... 62 CHAPTER 4. DISSERTATIONS ON ACHONDROPLASIA ..................................................................... 65 Overview...................................................................................................................................... 65 Dissertations on Achondroplasia ................................................................................................. 65 Keeping Current .......................................................................................................................... 65 CHAPTER 5. CLINICAL TRIALS AND ACHONDROPLASIA ............................................................... 67 Overview...................................................................................................................................... 67 Recent Trials on Achondroplasia ................................................................................................. 67 Keeping Current on Clinical Trials ............................................................................................. 68 CHAPTER 6. PATENTS ON ACHONDROPLASIA ............................................................................... 71 Overview...................................................................................................................................... 71 Patent Applications on Achondroplasia....................................................................................... 71 Keeping Current .......................................................................................................................... 72 CHAPTER 7. BOOKS ON ACHONDROPLASIA ................................................................................... 75 Overview...................................................................................................................................... 75 Book Summaries: Federal Agencies.............................................................................................. 75 Book Summaries: Online Booksellers........................................................................................... 77 The National Library of Medicine Book Index ............................................................................. 77 Chapters on Achondroplasia ........................................................................................................ 77 APPENDIX A. PHYSICIAN RESOURCES ............................................................................................ 81 Overview...................................................................................................................................... 81 NIH Guidelines............................................................................................................................ 81 NIH Databases............................................................................................................................. 83 Other Commercial Databases....................................................................................................... 85 The Genome Project and Achondroplasia .................................................................................... 85 APPENDIX B. PATIENT RESOURCES ................................................................................................. 89 Overview...................................................................................................................................... 89 Patient Guideline Sources............................................................................................................ 89 Finding Associations.................................................................................................................... 92 APPENDIX C. FINDING MEDICAL LIBRARIES .................................................................................. 95 Overview...................................................................................................................................... 95 Preparation................................................................................................................................... 95 Finding a Local Medical Library.................................................................................................. 95 Medical Libraries in the U.S. and Canada ................................................................................... 95 ONLINE GLOSSARIES................................................................................................................ 101

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Online Dictionary Directories ................................................................................................... 102 ACHONDROPLASIA DICTIONARY ....................................................................................... 105 INDEX .............................................................................................................................................. 137

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FORWARD In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading."1 Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with achondroplasia is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to know as much as possible about achondroplasia, using the most advanced research tools available and spending the least amount of time doing so. In addition to offering a structured and comprehensive bibliography, the pages that follow will tell you where and how to find reliable information covering virtually all topics related to achondroplasia, from the essentials to the most advanced areas of research. Public, academic, government, and peer-reviewed research studies are emphasized. Various abstracts are reproduced to give you some of the latest official information available to date on achondroplasia. Abundant guidance is given on how to obtain free-of-charge primary research results via the Internet. While this book focuses on the field of medicine, when some sources provide access to non-medical information relating to achondroplasia, these are noted in the text. E-book and electronic versions of this book are fully interactive with each of the Internet sites mentioned (clicking on a hyperlink automatically opens your browser to the site indicated). If you are using the hard copy version of this book, you can access a cited Web site by typing the provided Web address directly into your Internet browser. You may find it useful to refer to synonyms or related terms when accessing these Internet databases. NOTE: At the time of publication, the Web addresses were functional. However, some links may fail due to URL address changes, which is a common occurrence on the Internet. For readers unfamiliar with the Internet, detailed instructions are offered on how to access electronic resources. For readers unfamiliar with medical terminology, a comprehensive glossary is provided. For readers without access to Internet resources, a directory of medical libraries, that have or can locate references cited here, is given. We hope these resources will prove useful to the widest possible audience seeking information on achondroplasia. The Editors

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From the NIH, National Cancer Institute (NCI): http://www.cancer.gov/cancerinfo/ten-things-to-know.

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CHAPTER 1. STUDIES ON ACHONDROPLASIA Overview In this chapter, we will show you how to locate peer-reviewed references and studies on achondroplasia.

Federally Funded Research on Achondroplasia The U.S. Government supports a variety of research studies relating to achondroplasia. These studies are tracked by the Office of Extramural Research at the National Institutes of Health.2 CRISP (Computerized Retrieval of Information on Scientific Projects) is a searchable database of federally funded biomedical research projects conducted at universities, hospitals, and other institutions. Search the CRISP Web site at http://crisp.cit.nih.gov/crisp/crisp_query.generate_screen. You will have the option to perform targeted searches by various criteria, including geography, date, and topics related to achondroplasia. For most of the studies, the agencies reporting into CRISP provide summaries or abstracts. As opposed to clinical trial research using patients, many federally funded studies use animals or simulated models to explore achondroplasia. The following is typical of the type of information found when searching the CRISP database for achondroplasia: •

Project Title: ACHONDROPLASIA--RISK FACTORS FOR MORBIDITY AND MORTALITY Principal Investigator & Institution: Hurko, Orest; Johns Hopkins University 3400 N Charles St Baltimore, Md 21218 Timing: Fiscal Year 2002

2 Healthcare projects are funded by the National Institutes of Health (NIH), Substance Abuse and Mental Health Services (SAMHSA), Health Resources and Services Administration (HRSA), Food and Drug Administration (FDA), Centers for Disease Control and Prevention (CDCP), Agency for Healthcare Research and Quality (AHRQ), and Office of Assistant Secretary of Health (OASH).

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Summary: Some individuals with achondroplasia have increased problems involving the skeletal, respiratory and nervous systems. The aims of the study are to determine the frequency and severity of these problems in this population using a combination of physical examination, sleep study with pH monitoring, EKG, echocardiogram, and also MRI of head and neck. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: BIOCHEMICAL AND MOLECULAR BASIS OF THE COMP DISORDERS Principal Investigator & Institution: Cohn, Daniel H.; Professor; Cedars-Sinai Medical Center Box 48750, 8700 Beverly Blvd Los Angeles, Ca 900481804 Timing: Fiscal Year 2002; Project Start 15-JAN-1995; Project End 31-MAY-2004 Summary: Pseudoachondroplasia is a dominantly inherited chondrodysplasia characterized by short limbs, joint laxity, a waddling gait, and early onset osteoarthropathy. Diagnostic radiographic abnormalities of the epiphyses and metaphyses, as well as unique inclusion bodies within chondrocytes define the condition. The principal objective of the proposed work is to understand the molecular basis of pseudoachondroplasia and, through the isolation of the disease gene, determine the biological function of the gene product. We have recently determined that the pseudoachondroplasia phenotype is linked to polymorphic markers in the pericentromeric region of chromosome 19. A form of multiple epiphyseal dysplasia has also been recently mapped to the same chromosomal region. We propose to use the recent data to achieve the following goals: (A) To isolate the gene that is defective in pseudoachondroplasia. We will refine the genetic interval containing the disease gene, isolate molecular clones comprising the region, identify candidate genes, and characterize the disease gene. We will test the hypothesis that the gene of interest encodes an extracellular matrix protein that is expressed in a cartilage-specific manner. (B) To determine if there is genetic heterogeneity within the pseudoachondroplasia/multiple epiphyseal dysplasia disease spectrum. We will carry out linkage studies using the chromosome 19 markers to determine if the disease gene in additional families is linked to the same region. (C) To determine the chromosomal location of the disease gene in a family unlinked to the pseudoachondroplasia region of chromosome 19. Using a single, large family and both candidate gene and genome wide markers, we will identify a second locus within this group of chondrodysplasias. This work will directly benefit families with pseudoachondroplasia and multiple epiphyseal dysplasia in providing earlier and more specific diagnosis, and thereby improved clinical care. The specific features of the expression and function of the gene may also suggest rational approaches to therapy. In addition, because the region of chromosome 19 linked to pseudoachondroplasia does not encode any known components of cartilage, the proposed studies represent the opportunity to define a novel gene product from this tissue and identify the molecular basis of the osteoarthropathy that results from defects in it, opening up a broad new area of biological and biochemical investigation. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: DEVELOPMENTAL ACTIVITIES OF LATENT TGF-B BINDING PROTEIN Principal Investigator & Institution: Rifkin, Daniel B.; Professor; Cell Biology; New York University School of Medicine 550 1St Ave New York, Ny 10016

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Timing: Fiscal Year 2002; Project Start 01-DEC-1983; Project End 30-JUN-2005 Summary: The latent TGF-beta binding proteins (LTBP) comprise a family of four structurally related proteins that were originally described as part of the latent TGF-beta complex consisting of the TGF-beta dimer, the TGF-beta propeptides noncovalently bound to TGF-beta, and LTBP is thought to help control the activation of latent TGFbeta and to ensure that TGF-beta is released at the correct place and time. In order to gain insight into the functional role(s) of the LTBPs, we have created an LTBP-3 null mouse. This mouse has skeletal and cranial abnormalities that are similar to those observed in achondroplasia and Cruzon syndrome. To characterize potential roles for LTBPs in early development we have examined the distribution and function of LTBP-1 and -3 in Xenopus embryos. The distribution of LTBP-3 is restricted primarily to the cranial region. LTBP-1 has a widespread distribution, and in the early embryo its distribution is similar to that of proteins expressed by Spemann's organizer and that are responsible for dorsal patterning in the developing embryo. We have observed that expression of a truncated form of LTBP-1 in ventral cells of early embryos results in secondary dorsal axis formation in the ventral region. In this application, we propose three aims designed to clarify the role of LTBPs in development. In Aim 1 we will explore the molecular mechanism for the skeletal abnormalities in LTBP-3-/- mice. We will test the hypothesis that the phenotype results from excess formation of active TGFbeta in the absence of the normal binding protein by utilizing in vitro and in vivo approaches coupled with mouse molecular genetics. In Aim 2 we will address possible redundancy and/or functional ovelap within the LTBP family by generating an LTBP-4/- mouse. This animal will be studied together with LTBP-3 and LTBP-1 null animals to discern the relative contributions of specific family members to mouse physiology. In Aim 3 we will characterize the role of LTBP-1 in Xenopus embryo patterning. We will characterize the mechanism of dorsalization, the ligand bound, the mechanism of binding, and how this contributes to early patterning. In sum, the experiments outlined will yield information on the fundamental biology of LTBP. This information may have relevance in understanding developmental events in connective tissues. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: DYSFUNCTIONAL FGFR SIGNALING IN CRANIOSYNOSTOSIS Principal Investigator & Institution: Friesel, Robert E.; Scientist Ii and Assistant Director; Maine Medical Center 22 Bramhall St Portland, Me 04102 Timing: Fiscal Year 2002; Project Start 20-SEP-1998; Project End 31-JUL-2004 Summary: Craniosynostosis, an abnormality of skull development in which the sutures of the growing calvarial bones fuse prematurely, occurs with a frequency of approximately 1 in 2500 live births. Recently, six autosomal dominant craniosynostotic syndromes, Crouzon, Jackson-Weiss, Pfeiffer, Apert, Crouzon with acanthosis nigricans and Beare-Stevenson cutis gyra were shown to be associated with mutations in either fibroblast growth factor receptor (FGFR)-l, FGFR-2 or FGFR-3. In addition, several dwarfing syndromes, achondroplasia, thanatophoric dysplasia types I and II, and hypochondroplasia were shown to be associated with mutations in FGFR-3. The FGFRs consist of a family of four high affinity transmembrane tyrosine kinase receptors. The prototype FGFR is comprised of an extracellular ligand-binding domain made up of three immunoglobulin (Ig)-like domains, a hydrophobic membrane-spanning region and a cytoplasmic tyrosine kinase domain. Mutations in the extracellular ligand-binding domain and the transmembrane domain of FGFR-1, FGFR-2 and FGFR-3 have been associated with craniosynostotic syndromes while mutations in the extracellular, transmembrane and tyrosine kinase domains of FGFR-3 have been associated with

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dwarfing syndromes. Our recent studies indicate that mutations in the extracellular, transmembrane and tyrosine kinase domains that are associated with craniosynostosis and other skeletal dysplasias result in ligand-independent constitutive activation of the mutant receptors. The central hypothesis of this application is that point mutations in FGFRs that are associated with craniosynostosis and other skeletal dysplasias result in constitutive activation of these receptors and that these receptors have altered signal transduction capabilities compared to their wild-type counterparts. This altered signaling capacity may in part be responsible for the phenotypic manifestations of these mutations. Accordingly, the specific aims of the proposal are: 1) to determine whether additional mutations identified in FGFRs that are associated with skeletal dysplasias result in constitutive receptor activation; 2) to determine whether these different mutations impart the mutant receptors with altered signal transduction properties, and 3) to determine whether constitutively activating mutations in FGFRs result in altered stability or intracellular trafficking. Together, these studies should begin to elucidate the role of mutant FGFRs in the pathogenesis of craniosynostotic conditions, as well as the role of FGFRs in normal bone growth and development. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: EFFECT OF FGFR3 GENE MUTATION ON LINEAR BONE GROWTH Principal Investigator & Institution: Wilcox, William; Harbor-Ucla Research & Educ Inst 1124 W Carson St Torrance, Ca 90502 Timing: Fiscal Year 2003 Summary: This abstract is not available. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: FGF3 RECEPTOR/BMP4: PATHWAYS REGULATING SKELETAL GROWTH Principal Investigator & Institution: Naski, Michael C.; Assistant Professor; Pathology; University of Texas Hlth Sci Ctr San Ant 7703 Floyd Curl Dr San Antonio, Tx 78229 Timing: Fiscal Year 2002; Project Start 15-JUL-2000; Project End 30-JUN-2004 Summary: Fibroblast growth factor receptor 3 (FGFR3) is a chief regulator of endochondral bone growth, as evidenced by the discovery that the most common genetic cause of dwarfism, achondroplasia, results from mutations in FGFR3. This implies that pathways downstream of FGFR3 are central to the control of skeletal growth. Our goals are to understand the signaling pathways used by FGFR3 to control cell proliferation and differentiation during skeletal growth and development. Understanding these pathways will lead to novel interventions for the control of skeletal growth and suggest approaches for promoting cartilage repair and regeneration. We hypothesize that FGFR3 inhibits cell proliferation by accelerating pathways of cell senescence and inhibits cell differentiation by repressing BMP4 expression. These hypotheses are a direct consequence of our preliminary data showing that FGFR3 reduces the number of chondrocytes in S-phase and slows the rate of chondrocyte and osteoprogenitor cell differentiation. Intriguingly, FGFR3 represses the expression of bone morphogenetic protein 4 (BMP4) both in chondrocytes and perichondrial osteoprogenitor cells, suggesting that FGFR3 may synchronize bone growth in the perichondrium with the growth of the epiphyseal growth plate by modulating BMP4 expression. Despite this knowledge, much remains to be learned about how FGFR3 inhibits skeletal growth. Specifically, what are the pathways used by FGFR3 to inhibit cell proliferation and what are the mediators downstream of FGFR3 that inhibit

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perichondrial and chondrocyte differentiation? Without understanding these fundamental questions there is little hope of designing interventional treatments for dwarfing conditions such as achondroplasia. We will address these questions and test our hypotheses by pursuing the following specific aims: 1) Investigate how FGFR3 inhibits chondrocyte proliferation by testing the hypothesis that FGFR3 accelerates cell cycle senescence; 2a) Determine how BMP4 acts as a mediator of FGFR3 signaling by targeting the expression of BMP4 to cartilage of transgenic mice and 2b) Using a cre-lox system to express BMP4 in transgenic mice, investigate the separate and combined roles of BMP4 in cartilage and the perichondrium. These studies will utilize unique reagents, including FGFR3 transgenic mice, created during our preliminary studies. Using these reagents we can directly test what effects of FGFR3 are consequences of altered BMP4 expression. These studies will fundamentally advance our understanding of the communication of the growth plate and the perichondrium and unravel novel growth regulatory pathways of FGFR3 and BMP4. We anticipate these studies will suggest new ways to control skeletal growth and to promote cartilage repair and regeneration. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: GENETIC ANALYSIS USING SPERM TYPING Principal Investigator & Institution: Arnheim, Norman; Professor; Biological Sciences; University of Southern California 2250 Alcazar Street, Csc-219 Los Angeles, Ca 90033 Timing: Fiscal Year 2002; Project Start 01-SEP-1985; Project End 31-MAR-2006 Summary: This proposal seeks to study fundamental questions concerning mutation and recombination events that lead to human disease. One aim is to determine whether expansions of the CAT/CTG tracts found in Huntington disease patients occur in germline mitotic cells or following the initiation of meiosis. Studies are also proposed to examine whether the proximity or orientation of a CAG/CTG tract relative to an origin of DNA replication influences expansion size or frequency and whether this accounts for the marked inter-locus variation in expansion mutation susceptibility. Two other aims also focus on mutation. One aim will examine human sperm to determine whether the mutation that causes achondroplasia, the most common cause of dwarfism, increases with the age of the father as predicted by population studies. Another will examine the role played by members of the MutL DNA repair protein family on mononucleotide repeat slippage mutations. In humans this kind of mutation has been shown to inactivate important genes in many tumors from patients with the a familial colon cancer (HNPCC). The last aim seeks to directly measure the effects of sequence length and sequence similarity on the frequency of unequal recombination between repeated sequences in the human genome. Such events have been shown to lead to a variety of human disease syndromes. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: MECHANISMS OF MUTAGENISIS IN 'HOT SPOTS' CAUSING CANCER Principal Investigator & Institution: Wright, Barbara E.; Div of Biological Sciences; University of Montana University Hall 202 Missoula, Mt 598124104 Timing: Fiscal Year 2002; Project Start 10-JUL-2002; Project End 31-JAN-2004 Summary: (provided by applicant): In humans, characteristic DNA sequence motifs and 'hot spots' are frequently associated with mutational events leading to genetic diseases such as dwarfism (achondroplasia) and Apert's syndrome. Short sequences of DNA repeats, called microsatellites, generate instability in colon cancer, and T-G repeats and

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an ATGGTC hexamer are involved in breaks of hybrid genes in liposarcoma and leukemia. Some skin cancer cell lines harbor frameshift mutations in the hRAD30 gene, and over 35% of the transition mutations in haemophilias or retinoblastoma cancers occur at C-G sites at which C-to-T transitions occur. In both humans and microbes these mutations originate preferentially on the single-stranded non-transcribed strand, which is 100-times more vulnerable to mutation than dsDNA. Thus, transcription is implicated as a cause of these mutations. DNA secondary structures are also implicated, since hot spots in microbes and certain cancers are known to be associated with these structures. They are mutagenic precursors because they can contain repeat sequences susceptible to strand slippage (frameshifts) or inverted repeats that tend to form stem-loop structures containing vulnerable mispaired or unpaired bases. Exposure to stresses such as reactive oxygen species, pollutants and heavy metals could cause mutations resulting in cancer via direct effects on supercoiling and secondary structures. We will use a microbial model system to determine the mechanisms by which gene transcription and supercoiling triggered by various forms of stress increase mutation rates specifically in the activated genes. We will determine the effects of activators and supercoiling on transcription initiation and pausing, examine predicted stem-loop structures in both transcribed and non-transcribed strands, determine whether antisense DNA to the coding strand will protect genes from mutations, and modify sequences in stem-loop structures to examine predicted effects on mutation rates. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: MOLECULAR BIOLOGY OF OSTEOARTHRITIS Principal Investigator & Institution: Jimenez, Sergio A.; Professor; Medicine; Thomas Jefferson University Office of Research Administration Philadelphia, Pa 191075587 Timing: Fiscal Year 2002; Project Start 01-DEC-1988; Project End 31-MAR-2007 Summary: The overall aim of this Program Project is to provide a mechanistic understanding of how different mutations in the genes encoding several cartilage specific macromolecules such as type II procollagen, type IX procollagen and cartilage oligomeric matrix protein (COMP) result in the clinical phenotypes of chondrodysplasia and premature osteoarthritis, and to gain a detailed understanding of the effects of these mutations on the structure and biochemistry of cartilage matrix and on the process of chondrogenic differentiation. In addition, the Program Project will examine the role of novel genes expressed in cartilage which were identified employing differential gene expression profiling on the functions of articular cartilage. The work proposed is a logical extension of the research completed during the previous years of funding. Project 1 will extend the previous identification of COMP mutations in patients with multiple ephyseal dysplasia and pseudo achondroplasia to examine the mechanisms by which these mutations alter chondrogenesis and cartilage differentiation. The proposed studies will employ gene replacement (knock-in) technology in mice and retroviral gene transfer in vitro to determine the mechanisms whereby the mutations cause the clinical phenotype. Project 2 will examine the mechanisms by which different mutations in COL2AI and in COL9A2 result in specific phenotypes and will determine the effects of the mutations on collagen supramolecular assembly and structure by analyzing in vitro fibril formation employing electron microscopy and atomic force microscopy. The find Project will take advantage of previous gene expression profiling results which identified several novel genes expressed in human chondrocytes to unravel their function within cartilage. We expect that the results of this multi-faceted approach will provide a greater understanding of the role that mutations in genes encoding extracellular matrix cartilage proteins play on the pathogenesis of hereditary

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osteoarthritis and other related diseases. We also expect that the results will have broader implications towards the understanding of the pathogenic mechanisms of nonheritable forms of OA and will also provide novel information regarding the biology of chondrogenesis and chondrocyte function. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: MOLECULAR MECHANISMS OF FGFR RELATED SKELETAL DISORDERS Principal Investigator & Institution: Fu, Xin-Yuan; Associate Professor; Pathology; Yale University 47 College Street, Suite 203 New Haven, Ct 065208047 Timing: Fiscal Year 2002; Project Start 01-APR-1998; Project End 31-MAR-2003 Summary: Fibroblast growth factor receptors (FGFRs) have crucial functions in differentiation, angiogenesis, cell migration and development. Mutations in FGFRs have been shown to cause dominantly inherited human skeletal abnormalities and other disorders. In particular, the achondroplasia class of chondrodysplasias is comprised of the most common genetic forms of dwarfism in humans. Its members, achondroplasia (ACH), hypochondroplasia (HCH) and thanatoporic dysplasia types I and II (TDI and TDII), are caused by distinct mutations of fibroblast growth factor receptor 3 (FGFR3) which retard skeletal growth and development. The molecular mechanism and mediators of these FGFR3-related growth abnormalities are unclear. We have shown that the mutant TDII FGFR3 has a constitutive tyrosine kinase activity that could specifically activate STAT1 both in vitro and in vivo. Furthermore, TDII FGFR3-induced STAT1 activation was correlated with translocation of STAT1 to the nucleus, expression of cell cycle inhibitor p21WAF1/CIP1 and cell growth arrest in tissue culture cells and in the cartilage cells from the TDII fetus. These results have shown, for the first time, that abnormal STAT activation and p21WAF1/CIP1 expression may be responsible for the TDIIFGFR3-caused bone disease. Based on these discoveries, it is necessary to expand our research work on the detailed molecular mechanisms of FGFR signal transduction, and to further reveal the complicated molecular basis of mutant FGFR- associated abnormalities. In this application, I propose the following specific aims: 1) To investigate the possible programmed cell death (apoptosis) induced by the expression of mutant FGFR3. To determine whether STAT1 activation and p21 expression are involved in the induction of apoptosis. 2) To reveal molecular mechanisms of STAT1 activation by the TDII receptor and search for other possible signaling molecules that may also play a role in the mutant FGFR3 function. 3) To study molecular mechanisms of developmental disorders caused by mutant ACH, HCH, and TDI receptors of FGFR3. We will determine whether the abnormal STAT activation is also involved in these disorders. We will also test whether STAT1 activation is one of the outcomes of constitutive activation of other tyrosine kinases. 4) To generate mouse models using TDII and ACH knock-in technique. These mice will be used for in vivo test for our hypothesis and for potential therapeutic studies. I believe that the experiments proposed in this application represent a novel and important dimension of research that will reveal a molecular basis for FGFR-related genetic disorders. The results from these studies will also contribute to the development of the molecular therapies for these disorders in the future. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: PEX7 AND IT'S ROLE IN THE PATHOGENESIS OF RCDP Principal Investigator & Institution: Braverman, Nancy; Pediatrics; Johns Hopkins University 3400 N Charles St Baltimore, Md 21218

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Timing: Fiscal Year 2002; Project Start 28-FEB-2001; Project End 31-JAN-2006 Summary: (Adapted from investigator's abstract): Rhizomelic chondrodysplasio punctata (RCDP) is a peroxisome biogenesis disorder characterized by cataracts, skeletal abnormalities, profound growth failure and mental retardation. RCDP is inherited as an autosomal recessive trait and is caused by mutations in PEX7, which encodes Pex7p, the receptor for peroxisomal enzymes having a PTS2 sequence. The specific steps involved in the import of PTS2 proteins into peroxisomes are not known, but the P.I. favors a model in which Pex7p binds PTS2 proteins in the cytosol and transports them to the peroxisome. Pex7p contains six WD40 motifs that determine a beta propeller, a structure that provides multiple rigid surfaces for protein interactions. In RCDP, defective function of PTS2 enzymes is thought to produce unknown metabolic alterations that determine the RCDP phenotype. The overall goal of this proposal is to study the molecular and cellular biology of Pex7p and the pathogenesis of RCDP. The P.I. will achieve this by identification and functional analysis of disease related PEX7 mutations in 50+ RCDP probands, and functional analysis of wild type Pex7p. Dr. Braverman will evaluate Pex7p expression, subcellular location and ability to mediate PTS2 protein import. She will also determine the regions of Pex7p that bind PTS2 and interact with other peroxins. These studies will define the steps in PTS2 protein import and allow correlation of PEX7 defects with variations in RCDP phenotypes. The P.I. will generate a murine model of RCDP to investigate the biochemical alterations in PTS2 protein pathways and their relation to tissue pathology. The proposed strategy will utilize cre/lox technologies to engineer hypomorphic, null and conditional PEX7 alleles and produce mice with combinations of these alleles to develop useful models of RCDP. These mice will be characterized by clinical, radiological, histological and biochemical evaluations. This information will contribute to understanding the pathophysiology of RCDP as well as the normal biology of peroxisome assembly and function in bone, lens and CNS development. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: ROLE OF FGF SIGNALING IN BONE DEVELOPMENT Principal Investigator & Institution: Basilico, Claudio; Professor and Chairman; Microbiology; New York University School of Medicine 550 1St Ave New York, Ny 10016 Timing: Fiscal Year 2002; Project Start 01-FEB-2001; Project End 31-DEC-2005 Summary: Skeletal morphogenesis is controlled by a network of signaling molecules that first determine the fate of undifferentiated stem cells of the mesenchymal lineage and then regulate the proliferation and differentiation of committed osteogenic cells. Among the signaling molecules which influence bone morphogenesis, fibroblast growth factors (FGF) and their cognate receptors (FGFR) have been recently shown to play a major role both in endochondral and intramembranous bone formation. Activating mutations in FGFR3 have been shown to be responsible for several genetic forms of human dwarfism, and other activating mutations in FGFR1, FGFR2 and FGFR3 have been linked to many craniosynostosis syndromes. Mouse genetic experiments have confirmed that unregulated FGF signaling causes bone malformations and suggested that FGFs may act as negative regulators of bone growth. However, the molecular mechanisms through which FGFs influence the proliferation of differentiation of osteogenic cells (e.g. chondrocytes and osteoblasts) remain to be elucidated. The goal of this research project is to study the response to FGF signaling of chondrocytes. We have shown that FGF treatment inhibits the proliferation of chondrocytes, and that this inhibition requires activation of the STAT-1 pathway. Using organ cultures of metatarsal

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bones rudiments of E15 murine embryos we have also shown that FGFs regulate chondrocyte proliferation and bone development and that this effect also requires STAT-1. We wish to understand the molecular mechanisms underlying the growth inhibitory response of chondrocytes to FGF signaling and how FGF signaling affects chondrocyte proliferation and differentiation. We will study 1) the signal transduction pathways activated by FGF receptors in chondrocytes with an emphasis on the mechanisms leading to activation on STAT-1, which plays an essential role in the chondrocyte response to FGF; 2) how the progress of the differentiation program which takes place during organ culture of bone rudiments from murine embryos is affected by FGF treatment or by molecules in the FGF signaling pathways; 3) the effect of modulating FGF signaling on bone morphogenesis in vivo, using transgenic and knockout mice, to verify how STAT-1 influences long bone development and chondrodysplasia. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: SKELETAL DYSPLASIAS--INTERNATIONAL REGISTRY Principal Investigator & Institution: Rimoin, David; Harbor-Ucla Research & Educ Inst 1124 W Carson St Torrance, Ca 90502 Timing: Fiscal Year 2003 Summary: This abstract is not available. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: TARGETED MOUSE MODELS FOR STUDYING SKELETAL DYSPLASIA Principal Investigator & Institution: Briggs, Michael D.; Senior Research Fellow; Victoria University of Manchester Oxford Rd Manchester, Timing: Fiscal Year 2002; Project Start 27-SEP-2002; Project End 31-AUG-2006 Summary: (provided by applicant): As a group of heterogeneous diseases the osteochondrodysplasias have a complex aetiology, but are likely to share similar bask mechanisms of disease initiation, progression and end-stage pathology. In this context the principle objective of the proposed work is to determine the molecular, cell and extracellular matrix pathology of three distinct chondrodysplasia phenotypes, which result from mutations in the C-terminal globular domains of two different structural proteins that are important for normal bone development. From this approach we can expect to identify common basic mechanisms and learn general principles about genotype-phenotype correlations in other chondrodysplasia phenotypes. These data will ultimately help in developing therapeutic strategies that might be targeted to a range of individual phenotypes. Specifically, we will generate knock-in mouse models of (i) pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) resulting from mutations in the C-terminal globular domain of cartilage oligomeric matrix protein (COMP), and (ii) metaphyseal chondrodysplasia type Schmid (MCDS) resulting from a mutation in the C-terminal globular domain of type X Collagen. We will use these targeted mouse models to determine in vivo the disease pathology by using immunohistochemistry, transmission electron microscopy, in situ hybridisation and proteornics to study in-depth the affected tissues to understand the pathological sequence of events and secondary mechanisms of pathogenesis. Furthermore, we will use cells and tissues from these mice to develop in vitro approaches for studying the disease processes, thereby fully exploiting the targeted mouse models as we establish, test and compare in vivo/in vitro correlations.

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Achondroplasia

Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

E-Journals: PubMed Central3 PubMed Central (PMC) is a digital archive of life sciences journal literature developed and managed by the National Center for Biotechnology Information (NCBI) at the U.S. National Library of Medicine (NLM).4 Access to this growing archive of e-journals is free and unrestricted.5 To search, go to http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Pmc, and type “achondroplasia” (or synonyms) into the search box. This search gives you access to full-text articles. The following is a sample of items found for achondroplasia in the PubMed Central database: •

A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. by Wang Y, Spatz MK, Kannan K, Hayk H, Avivi A, Gorivodsky M, Pines M, Yayon A, Lonai P, Givol D.; 1999 Apr 13; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&artid=16353

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Chimeras of the native form or achondroplasia mutant (G375C) of human fibroblast growth factor receptor 3 induce ligand-dependent differentiation of PC12 cells. by Thompson LM, Raffioni S, Wasmuth JJ, Bradshaw RA.; 1997 Jul; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=abstr act&artid=232270

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The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect. by Tiemann-Boege I, Navidi W, Grewal R, Cohn D, Eskenazi B, Wyrobek AJ, Arnheim N.; 2002 Nov 12; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&artid=137526

The National Library of Medicine: PubMed One of the quickest and most comprehensive ways to find academic studies in both English and other languages is to use PubMed, maintained by the National Library of Medicine.6 The advantage of PubMed over previously mentioned sources is that it covers a greater number of domestic and foreign references. It is also free to use. If the publisher has a Web site that offers full text of its journals, PubMed will provide links to that site, as well as to sites offering other related data. User registration, a subscription fee, or some other type of fee may be required to access the full text of articles in some journals. To generate your own bibliography of studies dealing with achondroplasia, simply go to the PubMed Web site at http://www.ncbi.nlm.nih.gov/pubmed. Type “achondroplasia” (or 3 4

Adapted from the National Library of Medicine: http://www.pubmedcentral.nih.gov/about/intro.html.

With PubMed Central, NCBI is taking the lead in preservation and maintenance of open access to electronic literature, just as NLM has done for decades with printed biomedical literature. PubMed Central aims to become a world-class library of the digital age. 5 The value of PubMed Central, in addition to its role as an archive, lies in the availability of data from diverse sources stored in a common format in a single repository. Many journals already have online publishing operations, and there is a growing tendency to publish material online only, to the exclusion of print. 6 PubMed was developed by the National Center for Biotechnology Information (NCBI) at the National Library of Medicine (NLM) at the National Institutes of Health (NIH). The PubMed database was developed in conjunction with publishers of biomedical literature as a search tool for accessing literature citations and linking to full-text journal articles at Web sites of participating publishers. Publishers that participate in PubMed supply NLM with their citations electronically prior to or at the time of publication.

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synonyms) into the search box, and click “Go.” The following is the type of output you can expect from PubMed for achondroplasia (hyperlinks lead to article summaries): •

A cartilage oligomeric matrix protein mutation associated with pseudoachondroplasia changes the structural and functional properties of the type 3 domain. Author(s): Maddox BK, Mokashi A, Keene DR, Bachinger HP. Source: The Journal of Biological Chemistry. 2000 April 14; 275(15): 11412-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10753957&dopt=Abstract

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A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia. Author(s): Imamura Y, Kondoh T, Kamei T, Tsuru A, Shimasaki Y, Kinoshita E, Matsumoto T, Moriuchi H. Source: Pediatrics International : Official Journal of the Japan Pediatric Society. 2000 October; 42(5): 564-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11059551&dopt=Abstract

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A mild form of pseudoachondroplasia: minimal epi-metaphyseal involvement of long bones. Author(s): Manabe N, Nakamura K, Ikegawa S, Kimizuka M. Source: European Journal of Radiology. 1998 September; 28(2): 155-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9788021&dopt=Abstract

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A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. Author(s): Wang Y, Spatz MK, Kannan K, Hayk H, Avivi A, Gorivodsky M, Pines M, Yayon A, Lonai P, Givol D. Source: Proceedings of the National Academy of Sciences of the United States of America. 1999 April 13; 96(8): 4455-60. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10200283&dopt=Abstract

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A novel mutation of the COMP gene in a Thai family with pseudoachondroplasia. Author(s): Shotelersuk V, Punyashthiti R. Source: International Journal of Molecular Medicine. 2002 January; 9(1): 81-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11745002&dopt=Abstract

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Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia. Author(s): Boor R, Fricke G, Bruhl K, Spranger J. Source: European Journal of Pediatrics. 1999 August; 158(8): 662-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10445347&dopt=Abstract

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Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia. Author(s): Reynolds KK, Modaff P, Pauli RM. Source: American Journal of Medical Genetics. 2001 June 1; 101(1): 40-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11343336&dopt=Abstract

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Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. Author(s): Keiper GL Jr, Koch B, Crone KR. Source: Pediatric Neurosurgery. 1999 August; 31(2): 78-83. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10592476&dopt=Abstract

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Achondroplasia and enchondromatosis in a female child. Author(s): Nizankowska-Blaz T, Wisz S, Kozlowski K. Source: Skeletal Radiology. 2003 July; 32(7): 432-4. Epub 2003 May 28. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12774176&dopt=Abstract

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Achondroplasia and nail-patella syndrome: the compound phenotype. Author(s): Wright MJ, Ain MC, Clough MV, Bellus GA, Hurko O, McIntosh I. Source: Journal of Medical Genetics. 2000 September; 37(9): E25. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10978372&dopt=Abstract

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Achondroplasia associated with Down syndrome. Author(s): Carakushansky G, Rosembaum S, Ribeiro MG, Kahn E, Carakushansky M. Source: American Journal of Medical Genetics. 1998 May 1; 77(2): 168-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9605293&dopt=Abstract

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Achondroplasia associated with pelvic lipomatosis. Author(s): Ono T, Tanaka H, Moriwake T, Kanzaki S, Seino Y. Source: Lancet. 1999 March 20; 353(9157): 1017. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10459944&dopt=Abstract

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Achondroplasia associated with pelvic lipomatosis. Author(s): Kume H, Kume Y, Takamoto K. Source: Lancet. 1999 March 20; 353(9157): 1017. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10459943&dopt=Abstract

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Achondroplasia in diverse Jewish and Arab populations in Israel: clinical and molecular characterization. Author(s): Falik-Zaccai TC, Shachak E, Abeliovitch D, Lerer I, Shefer R, Carmi R, Ries L, Friedman M, Shohat M, Borochowitz Z. Source: Isr Med Assoc J. 2000 August; 2(8): 601-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10979354&dopt=Abstract

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Achondroplasia in man and animals. Author(s): Maroteaux P, Lamy M. Source: Clinical Orthopaedics and Related Research. 1964 March-April; 33: 91-103. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5889028&dopt=Abstract

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Achondroplasia in Sweden caused by the G1138A mutation in FGFR3. Author(s): Alderborn A, Anvret M, Gustavson KH, Hagenas L, Wadelius C. Source: Acta Paediatrica (Oslo, Norway : 1992). 1996 December; 85(12): 1506-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9001669&dopt=Abstract

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Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene. Author(s): Pehlivan S, Ozkinay F, Okutman O, Cogulu O, Ozcan A, Cankaya T, Ulgenalp A. Source: Turk J Pediatr. 2003 April-June; 45(2): 99-101. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12921294&dopt=Abstract

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Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father. Author(s): Sobetzko D, Braga S, Rudeberg A, Superti-Furga A. Source: Journal of Medical Genetics. 2000 December; 37(12): 958-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11186940&dopt=Abstract

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Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. Author(s): Cohen MM Jr. Source: International Journal of Oral and Maxillofacial Surgery. 1998 December; 27(6): 451-5. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9869286&dopt=Abstract

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Achondroplasia. Author(s): Vijayalakshmi AM. Source: Indian Pediatrics. 2002 July; 39(7): 694-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12147902&dopt=Abstract

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Achondroplasia: a case of neglect? Author(s): Young ID. Source: Lancet. 1998 December 19-26; 352(9145): 1950-1. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9872238&dopt=Abstract

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Achondroplasia: recent advances in diagnosis and treatment. Author(s): Tanaka H. Source: Acta Paediatr Jpn. 1997 August; 39(4): 514-20. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9316303&dopt=Abstract

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Achondroplasia-hypochondroplasia complex in a newborn infant. Author(s): Huggins MJ, Smith JR, Chun K, Ray PN, Shah JK, Whelan DT. Source: American Journal of Medical Genetics. 1999 June 11; 84(5): 396-400. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10360392&dopt=Abstract

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An improved methodology for the detection of the common mutation in the FGFR3 gene responsible for achondroplasia. Author(s): Lanning RW, Brown CA. Source: Human Mutation. 1997; 10(6): 496-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9401015&dopt=Abstract

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An uncommon G375C substitution in a newborn with achondroplasia. Author(s): Addor MC, Gudinchet F, Truttmann A, Schorderet DF. Source: Genet Couns. 2000; 11(2): 169-74. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10893668&dopt=Abstract

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Anaesthetic management of a patient with achondroplasia. Author(s): Krishnan BS, Eipe N, Korula G. Source: Paediatric Anaesthesia. 2003 July; 13(6): 547-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12846715&dopt=Abstract

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Analysis of the FGFR3 gene in Japanese patients with achondroplasia and hypochondroplasia. Author(s): Katsumata N, Mikami S, Nagashima-Miyokawa A, Nimura A, Sato N, Horikawa R, Tanae A, Tanaka T. Source: Endocrine Journal. 2000 March; 47 Suppl: S121-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10890199&dopt=Abstract

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Another condition--not achondroplasia--masquerading in a recent textbook. Author(s): Oestreich AE. Source: Pediatric Radiology. 2002 August; 32(8): 611. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12269255&dopt=Abstract

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Apoptosis staining in cultured pseudoachondroplasia chondrocytes. Author(s): Duke J, Montufar-Solis D, Underwood S, Lalani Z, Hecht JT. Source: Apoptosis : an International Journal on Programmed Cell Death. 2003 March; 8(2): 191-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12766479&dopt=Abstract

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Atypical achondroplasia. Author(s): Gorlin RJ. Source: American Journal of Medical Genetics. 1997 May 16; 70(2): 202; Author Reply 203-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9128943&dopt=Abstract

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Bes, Aesop and Morgante: reflections of achondroplasia. Author(s): Hecht F. Source: Clinical Genetics. 1990 April; 37(4): 279-82. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2190719&dopt=Abstract

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Bilateral failure of the capital femoral epiphysis: bilateral Perthes disease, multiple epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita and tarda. Author(s): Crossan JF, Wynne-Davies R, Fulford GE. Source: Journal of Pediatric Orthopedics. 1983 July; 3(3): 297-301. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6409926&dopt=Abstract

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Bilateral humeral lengthening in achondroplasia. Author(s): Kashiwagi N, Suzuki S, Seto Y, Futami T. Source: Clinical Orthopaedics and Related Research. 2001 October; (391): 251-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11603677&dopt=Abstract

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Biophysical bases for delayed and aberrant motor development in young children with achondroplasia. Author(s): Fowler ES, Glinski LP, Reiser CA, Horton VK, Pauli RM. Source: Journal of Developmental and Behavioral Pediatrics : Jdbp. 1997 June; 18(3): 14350. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9213228&dopt=Abstract

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Birth prevalence and mutation rate of achondroplasia in the Italian Multicentre Monitoring System for Birth Defects. Author(s): Camera G, Mastroiacovo P. Source: Basic Life Sci. 1988; 48: 11-5. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3071354&dopt=Abstract

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Bone dysplasia in a child born to parents with osteogenesis imperfecta and pseudoachondroplasia. Author(s): Kitoh H, Oki T, Arao K, Nogami H. Source: American Journal of Medical Genetics. 1994 July 1; 51(3): 187-90. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8074142&dopt=Abstract

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Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. Author(s): Lemyre E, Azouz EM, Teebi AS, Glanc P, Chen MF. Source: Canadian Association of Radiologists Journal = Journal L'association Canadienne Des Radiologistes. 1999 June; 50(3): 185-97. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10405653&dopt=Abstract

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Bone formation in achondroplasia. Author(s): Ponseti IV. Source: Basic Life Sci. 1988; 48: 109-22. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3240240&dopt=Abstract

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Bone marrow transplantation in a patient with chronic myeloid leukemia and achondroplasia. Author(s): Geromin A, Sperotto A, Fanin R, Damiani D, Michieli M, Baccarani M. Source: Haematologica. 1997 November-December; 82(6): 703-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9499671&dopt=Abstract

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Brain morphometric analysis in achondroplasia. Author(s): DiMario FJ Jr, Ramsby GR, Burleson JA, Greensheilds IR. Source: Neurology. 1995 March; 45(3 Pt 1): 519-24. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7898709&dopt=Abstract

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Brain tumor and achondroplasia: a case report and review of the literature. Author(s): McArdle DQ, Sawaya R, Khodadad G. Source: Neurosurgery. 1984 July; 15(1): 111-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6472587&dopt=Abstract

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Breathing abnormalities in sleep in achondroplasia. Author(s): Waters KA, Everett F, Sillence D, Fagan E, Sullivan CE. Source: Archives of Disease in Childhood. 1993 August; 69(2): 191-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8215519&dopt=Abstract

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Calreticulin, PDI, Grp94 and BiP chaperone proteins are associated with retained COMP in pseudoachondroplasia chondrocytes. Author(s): Hecht JT, Hayes E, Snuggs M, Decker G, Montufar-Solis D, Doege K, Mwalle F, Poole R, Stevens J, Duke PJ. Source: Matrix Biology : Journal of the International Society for Matrix Biology. 2001 July; 20(4): 251-62. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11470401&dopt=Abstract

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Case report: renal osteodystrophy in association with spinal stenosis in achondroplasia. Author(s): Ong JS, McKenna MJ, Lorigan JG, Watson A, Freaney R. Source: Ir J Med Sci. 1996 July-September; 165(3): 155-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8824015&dopt=Abstract

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Cervicomedullary compression in achondroplasia. Author(s): Ryken TC, Menezes AH. Source: Journal of Neurosurgery. 1994 July; 81(1): 43-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8207526&dopt=Abstract

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Cervicomedullary compression in young patients with achondroplasia: value of comprehensive neurologic and respiratory evaluation. Author(s): Reid CS, Pyeritz RE, Kopits SE, Maria BL, Wang H, McPherson RW, Hurko O, Phillips JA 3rd, Rosenbaum AE. Source: The Journal of Pediatrics. 1987 April; 110(4): 522-30. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3559799&dopt=Abstract

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Cervicomedullary compression with achondroplasia. Author(s): Wassman ER Jr, Rimoin DL. Source: The Journal of Pediatrics. 1988 August; 113(2): 411. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3397808&dopt=Abstract

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Cervicomedullary cord compression in young children with achondroplasia: value of comprehensive neurologic and respiratory evaluation. Author(s): Reid CS, Pyeritz RE, Kopits SE, Maria BL, Wang H, McPherson RW, Hurko O, Phillips JA. Source: Basic Life Sci. 1988; 48: 199-206. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3240254&dopt=Abstract

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Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression. Author(s): Rimoin DL. Source: American Journal of Human Genetics. 1995 April; 56(4): 824-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7717392&dopt=Abstract

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Achondroplasia

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Characterization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissues. Author(s): Hecht JT, Deere M, Putnam E, Cole W, Vertel B, Chen H, Lawler J. Source: Matrix Biology : Journal of the International Society for Matrix Biology. 1998 August; 17(4): 269-78. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9749943&dopt=Abstract

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Chest wall deformity and respiratory distress in a 17-year-old patient with achondroplasia: CT and MRI evaluation. Author(s): Herman TE, Siegel MJ, McAlister WH. Source: Pediatric Radiology. 1992; 22(3): 233-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1508600&dopt=Abstract

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Chimeras of the native form or achondroplasia mutant (G375C) of human fibroblast growth factor receptor 3 induce ligand-dependent differentiation of PC12 cells. Author(s): Thompson LM, Raffioni S, Wasmuth JJ, Bradshaw RA. Source: Molecular and Cellular Biology. 1997 July; 17(7): 4169-77. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9199352&dopt=Abstract

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Chinese achondroplasia is also defined by recurrent G380R mutations of the fibroblast growth factor receptor-3 gene. Author(s): Niu DM, Hsiao KJ, Wang NH, Chin LS, Chen CH. Source: Human Genetics. 1996 July; 98(1): 65-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8682509&dopt=Abstract

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Choanal atresia with achondroplasia. Author(s): Oestreich AE. Source: The Journal of Pediatrics. 1980 February; 96(2): 343-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7351612&dopt=Abstract

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Clinical and molecular characteristics of Thai patients with achondroplasia. Author(s): Shotelersuk V, Ittiwut C, Srivuthana S, Wacharasindhu S, Aroonparkmongkol S, Mutirangura A, Poovorawan Y. Source: Southeast Asian J Trop Med Public Health. 2001 June; 32(2): 429-33. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11556601&dopt=Abstract

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Clinical variability in achondroplasia. Author(s): Rimoin DL. Source: Basic Life Sci. 1988; 48: 123-7. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3071355&dopt=Abstract

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Cognitive skills in achondroplasia. Author(s): Brinkmann G, Schlitt H, Zorowka P, Spranger J. Source: American Journal of Medical Genetics. 1993 October 1; 47(5): 800-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8267016&dopt=Abstract

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Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia. Author(s): Bonaventure J, Rousseau F, Legeai-Mallet L, Le Merrer M, Munnich A, Maroteaux P. Source: Acta Paediatrica (Oslo, Norway : 1992). Supplement. 1996 October; 417: 33-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9055906&dopt=Abstract

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Comparison of education and occupation of adults with achondroplasia with samesex sibs. Author(s): Roizen N, Ekwo E, Gosselink C. Source: American Journal of Medical Genetics. 1990 February; 35(2): 257-60. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2309765&dopt=Abstract

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Complex oncologic reconstruction of a mandibular and floor of mouth defect with a fibula free flap in an achondroplastic patient. Author(s): Garcia-Rozado A, Martin Sastre RJ, Lopez Cedrun JL. Source: Microsurgery. 2003; 23(4): 296-305. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12942518&dopt=Abstract

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Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome. Author(s): Chitayat D, Fernandez B, Gardner A, Moore L, Glance P, Dunn M, Chun K, Sgro M, Ray P, Allingham-Hawkins D. Source: American Journal of Medical Genetics. 1999 June 11; 84(5): 401-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10360393&dopt=Abstract

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Cone-rod retinal dystrophy and Duane retraction syndrome in a patient with achondroplasia. Author(s): Guirgis MF, Thornton SS, Tychsen L, Lueder GT. Source: J Aapos. 2002 December; 6(6): 400-1. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12506285&dopt=Abstract

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Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. Author(s): Webster MK, Donoghue DJ. Source: The Embo Journal. 1996 February 1; 15(3): 520-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8599935&dopt=Abstract

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Achondroplasia

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Correction of lumbosacral hyperlordosis in achondroplasia. Author(s): Park HW, Kim HS, Hahn SB, Yang KH, Choi CH, Park JO, Jung SH. Source: Clinical Orthopaedics and Related Research. 2003 September; (414): 242-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12966299&dopt=Abstract

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Craniocervical decompression for cervicomedullary compression in pediatric patients with achondroplasia. Author(s): Aryanpur J, Hurko O, Francomano C, Wang H, Carson B. Source: Journal of Neurosurgery. 1990 September; 73(3): 375-82. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2384775&dopt=Abstract

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Craniocervical stenosis and apnea spells in a 2-month-old baby with achondroplasia. Author(s): Najjar JA, Peitersen SE, Carter LP. Source: Journal of Child Neurology. 1995 November; 10(6): 484-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8576562&dopt=Abstract

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CT of the temporal bone in achondroplasia. Author(s): Cobb SR, Shohat M, Mehringer CM, Lachman R. Source: Ajnr. American Journal of Neuroradiology. 1988 November-December; 9(6): 1195-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3143244&dopt=Abstract

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Cytochrome a3 deficiency in human achondroplasia. Author(s): Mackler B, Davis KA, Grace R. Source: Biochimica Et Biophysica Acta. 1987 April 15; 891(2): 145-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3030420&dopt=Abstract

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Deformation across the zone of callotasis during loading. radiostereometric analysis in a patient with achondroplasia. Author(s): Steen H, Kristiansen LP, Finnanger AM, Karrholm J, Reikeras O. Source: Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society. 2001 March; 19(2): 265-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11347700&dopt=Abstract

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Deformities of the elbow in achondroplasia. Author(s): Kitoh H, Kitakoji T, Kurita K, Katoh M, Takamine Y. Source: The Journal of Bone and Joint Surgery. British Volume. 2002 July; 84(5): 680-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12188484&dopt=Abstract

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Dental anomalies in association with achondroplasia. Report of two cases. Author(s): Brook AH, Winter GB. Source: British Dental Journal. 1970 December 1; 129(11): 519-20. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5275972&dopt=Abstract

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Development of pseudo-achondroplasia over a 30-year period in an adult patient. Author(s): Nores JM, Maroteaux P, Remy JM. Source: Clinical Rheumatology. 1989 June; 8(2): 282-8. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2667861&dopt=Abstract

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Developmental abnormalities of the occipital bone in human chondrodystrophies (achondroplasia and thanatophoric dwarfism). Author(s): Marin-Padilla M, Marin-Padilla TM. Source: Birth Defects Orig Artic Ser. 1977; 13(3D): 7-23. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=303528&dopt=Abstract

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Different morphologic findings and genetic heterogeneity in pseudoachondroplasia: light- and electron-microscopic observations in iliac crest bioptic material. Author(s): Stoss H, Pesch HJ, Spranger J. Source: Prog Clin Biol Res. 1982; 104: 379-83. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7163282&dopt=Abstract

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Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study. Author(s): Tasker RC, Dundas I, Laverty A, Fletcher M, Lane R, Stocks J. Source: Archives of Disease in Childhood. 1998 August; 79(2): 99-108. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9797588&dopt=Abstract

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Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. Author(s): Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH. Source: American Journal of Human Genetics. 1998 February; 62(2): 311-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9463320&dopt=Abstract

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Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. Author(s): Unger S, Korkko J, Krakow D, Lachman RS, Rimoin DL, Cohn DH. Source: American Journal of Medical Genetics. 2001 November 22; 104(2): 140-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11746045&dopt=Abstract

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Achondroplasia

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Dwarfism in Dexter cattle is not caused by the mutations in FGFR3 responsible for achondroplasia in humans. Author(s): Usha AP, Lester DH, Williams JL. Source: Animal Genetics. 1997 February; 28(1): 55-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9124710&dopt=Abstract

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Early detection of neurological manifestations in achondroplasia. Author(s): Ruiz-Garcia M, Tovar-Baudin A, Del Castillo-Ruiz V, Rodriguez HP, Collado MA, Mora TM, Rueda-Franco F, Gonzalez-Astiazaran A. Source: Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery. 1997 April; 13(4): 208-13. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9202856&dopt=Abstract

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Effect of growth hormone therapy in children with achondroplasia: growth pattern, hypothalamic-pituitary function, and genotype. Author(s): Tanaka H, Kubo T, Yamate T, Ono T, Kanzaki S, Seino Y. Source: European Journal of Endocrinology / European Federation of Endocrine Societies. 1998 March; 138(3): 275-80. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9539301&dopt=Abstract

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Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta. Author(s): Orioli IM, Castilla EE, Scarano G, Mastroiacovo P. Source: American Journal of Medical Genetics. 1995 November 6; 59(2): 209-17. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8588588&dopt=Abstract

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Effects and serum levels of thrombopoietin in a case of chronic thrombocytopenia with achondroplasia. Author(s): Ishiguro A, Nakahata T, Muraoka K, Tahara T, Miyazaki H, Kato T, Inaba Y, Shimbo T. Source: International Journal of Hematology. 1997 July; 66(1): 99-102. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9220665&dopt=Abstract

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Effects of lower-leg lengthening on bone mineral density and soft tissue composition of legs in a patient with achondroplasia. Author(s): Takata S, Ikata T, Yonezu H, Inoue A. Source: Journal of Bone and Mineral Metabolism. 2000; 18(6): 339-41. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11052467&dopt=Abstract

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Elbow and other upper limb deformities in achondroplasia. Author(s): Bailey JA 2nd. Source: Clinical Orthopaedics and Related Research. 1971 October; 80: 75-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5133334&dopt=Abstract

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Errors in the diagnosis of achondroplasia. Author(s): Silverman FN, Brunner S. Source: Acta Radiol Diagn (Stockh). 1967 July; 6(4): 305-21. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5298661&dopt=Abstract

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Errors in the prenatal diagnosis of children with achondroplasia. Author(s): Modaff P, Horton VK, Pauli RM. Source: Prenatal Diagnosis. 1996 June; 16(6): 525-30. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8809893&dopt=Abstract

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Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia. Author(s): Ogilvie D, Wordsworth P, Thompson E, Sykes B. Source: Journal of Medical Genetics. 1986 February; 23(1): 19-22. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3005580&dopt=Abstract

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Extended laminectomy for spinal stenosis in achondroplasia. Author(s): Streeten E, Uematsu S, Hurko O, Kopits S, Murphy E, Pyeritz R. Source: Basic Life Sci. 1988; 48: 261-73. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3240261&dopt=Abstract

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Extradural anaesthesia for caesarean section in achondroplasia. Author(s): Wardall GJ, Frame WT. Source: British Journal of Anaesthesia. 1990 March; 64(3): 367-70. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2328185&dopt=Abstract

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Facial palsy and achondroplasia: a rare association. Author(s): Cerqueiro-Mosquera J, Penrose-Stevens A, Fatah MF. Source: Annals of Plastic Surgery. 2001 August; 47(2): 203-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11506333&dopt=Abstract

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Failure to early prenatal diagnosis in classic achondroplasia. Author(s): Hall JG, Golbus MS, Graham CB, Pagon RA, Luthy DA, Filly RA. Source: American Journal of Medical Genetics. 1979; 3(4): 371-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=474637&dopt=Abstract

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Familial recurrence of achondroplasia. Author(s): Fitzsimmons JS. Source: American Journal of Medical Genetics. 1985 November; 22(3): 609-13. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4061493&dopt=Abstract

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Achondroplasia

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FGFR3 gene mutation (Gly380Arg) with achondroplasia and i(21q) Down syndrome: phenotype-genotype correlation. Author(s): Chen H, Mu X, Sonoda T, Kim KC, Dailey K, Martinez J, Tuck-Muller C, Wertelecki W. Source: Southern Medical Journal. 2000 June; 93(6): 622-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10881785&dopt=Abstract

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FGFR3 gene mutations in transmembrane domain in Chinese achondroplasia and hypochondroplasia patients. Author(s): Yan-Ling G, Ji-Hong N, Guo-Qiang L, Wei W, De-Fen W. Source: Hormone Research. 1998; 49 Suppl 1: 57. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9554479&dopt=Abstract

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Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia. Author(s): Wang TR, Wang WP, Hwu WL, Lee ML. Source: Human Mutation. 1996; 8(2): 178-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8844216&dopt=Abstract

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Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism. Author(s): Horton WA, Lunstrum GP. Source: Reviews in Endocrine & Metabolic Disorders. 2002 December; 3(4): 381-5. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12424440&dopt=Abstract

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Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism. Author(s): Aviezer D, Golembo M, Yayon A. Source: Current Drug Targets. 2003 July; 4(5): 353-65. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12816345&dopt=Abstract

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First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia. Author(s): Bellus GA, Escallon CS, Ortiz de Luna R, Shumway JB, Blakemore KJ, McIntosh I, Francomano CA. Source: Lancet. 1994 November 26; 344(8935): 1511-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7968151&dopt=Abstract

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Foramen magnum decompression for homozygous achondroplasia. Author(s): Hecht JT, Butler IJ, Horton WA. Source: Journal of Neurosurgery. 1989 August; 71(2): 300-1. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2746357&dopt=Abstract

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Foramen magnum decompression in an infant with homozygous achondroplasia. Case report. Author(s): Moskowitz N, Carson B, Kopits S, Levitt R, Hart G. Source: Journal of Neurosurgery. 1989 January; 70(1): 126-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2909672&dopt=Abstract

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Foramen magnum decompression in infants with homozygous achondroplasia. Author(s): Scott RM. Source: Journal of Neurosurgery. 1990 March; 72(3): 519. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2303889&dopt=Abstract

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Foramen magnum stenosis and bilateral benign subdural collections in achondroplasia: case report. Author(s): Mancuso P, Nicoletti GF, Passanisi M, Albanese V. Source: Journal of Neurosurgical Sciences. 1994 December; 38(4): 259-62. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7562034&dopt=Abstract

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Foramen magnum stenosis in homozygous achondroplasia. Author(s): Hecht JT, Horton WA, Butler IJ, Goldie WD, Miner ME, Shannon R, Pauli RM. Source: European Journal of Pediatrics. 1986 December; 145(6): 545-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3816858&dopt=Abstract

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Frequency of the appearance of the dominant mutation of achondroplasia in man. Communication I. Ratio of sporadic and familial cases. Author(s): Lunga IN, Meerson EM, Moin ML. Source: Sov Genet. 1974 November 15; 9(1): 109-11. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4453852&dopt=Abstract

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Functional health status of adults with achondroplasia. Author(s): Mahomed NN, Spellmann M, Goldberg MJ. Source: American Journal of Medical Genetics. 1998 June 16; 78(1): 30-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9637420&dopt=Abstract

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Fusion of the short arms of two X chromosomes in a patient with phenotype of achondroplasia. Author(s): Pena J, Pombo M, Martinon JM, Ansede A, Noya M. Source: J Genet Hum. 1977 October; 25(3): 215-20. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=591927&dopt=Abstract

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Genetic counselling in unexpected familial recurrence of achondroplasia. Author(s): Dodinval P, Le Marec B. Source: American Journal of Medical Genetics. 1987 December; 28(4): 949-54. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3688033&dopt=Abstract

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Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19. Author(s): Briggs MD, Rasmussen IM, Weber JL, Yuen J, Reinker K, Garber AP, Rimoin DL, Cohn DH. Source: Genomics. 1993 December; 18(3): 656-60. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8307576&dopt=Abstract

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Genetics clinics of The Johns Hopkins Hospital. Surgical intervention in achondroplasia. Cervical and lumbar laminectomy for spinal stenosis in achondroplasia. Author(s): Pyeritz RE, Sack GH Jr, Udvarhelyi GB. Source: Johns Hopkins Med J. 1980 May; 146(5): 203-6. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7382243&dopt=Abstract

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Genetics clinics of The Johns Hopkins Hospital. Surgical intervention in achondroplasia. Correction of bowleg deformity in achondroplasia. Author(s): Kopits SE. Source: Johns Hopkins Med J. 1980 May; 146(5): 206-9. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7382244&dopt=Abstract

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Genotype phenotype correlation in achondroplasia and hypochondroplasia. Author(s): Matsui Y, Yasui N, Kimura T, Tsumaki N, Kawabata H, Ochi T. Source: The Journal of Bone and Joint Surgery. British Volume. 1998 November; 80(6): 1052-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9853502&dopt=Abstract

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Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents. Author(s): Fryns JP, Kleczkowska A, Verresen H, van den Berghe H. Source: Clinical Genetics. 1983 September; 24(3): 156-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6627718&dopt=Abstract

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Germline and somatic mosaicism in achondroplasia. Author(s): Henderson S, Sillence D, Loughlin J, Bennetts B, Sykes B. Source: Journal of Medical Genetics. 2000 December; 37(12): 956-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11186939&dopt=Abstract

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Gibbal achondroplasia. Author(s): Beighton P, Bathfield CA. Source: The Journal of Bone and Joint Surgery. British Volume. 1981; 63-B(3): 328-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7263742&dopt=Abstract

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Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis. Author(s): Chen L, Adar R, Yang X, Monsonego EO, Li C, Hauschka PV, Yayon A, Deng CX. Source: The Journal of Clinical Investigation. 1999 December; 104(11): 1517-25. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10587515&dopt=Abstract

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Gonadal mosaicism in pseudoachondroplasia. Author(s): Hall JG, Dorst JP, Rotta J, McKusick VA. Source: American Journal of Medical Genetics. 1987 September; 28(1): 143-51. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3314506&dopt=Abstract

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Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. Author(s): Naski MC, Wang Q, Xu J, Ornitz DM. Source: Nature Genetics. 1996 June; 13(2): 233-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8640234&dopt=Abstract

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Growth and growth hormone therapy in children with achondroplasia: a two-year experience. Author(s): Stamoyannou L, Karachaliou F, Neou P, Papataxiarchou K, Pistevos G, Bartsocas CS. Source: American Journal of Medical Genetics. 1997 October 3; 72(1): 71-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9295079&dopt=Abstract

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Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia. Author(s): Horton WA, Hall JG, Scott CI, Pyeritz RE, Rimoin DL. Source: Am J Dis Child. 1982 April; 136(4): 316-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6803579&dopt=Abstract

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Growth hormone (GH) treatment in achondroplasia. Author(s): Yamate T, Kanzaki S, Tanaka H, Kubo T, Moriwake T, Inoue M, Seino Y. Source: J Pediatr Endocrinol. 1993 January-March; 6(1): 45-52. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8374688&dopt=Abstract

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Growth hormone therapy in achondroplasia. Author(s): Seino Y, Yamanaka Y, Shinohara M, Ikegami S, Koike M, Miyazawa M, Inoue M, Moriwake T, Tanaka H. Source: Hormone Research. 2000; 53 Suppl 3: 53-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10971105&dopt=Abstract

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Growth hormone therapy in achondroplasia. Author(s): Nishi Y, Kajiyama M, Miyagawa S, Fujiwara M, Hamamoto K. Source: Acta Endocrinol (Copenh). 1993 May; 128(5): 394-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8317186&dopt=Abstract

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Growth hormone therapy in achondroplasia. Author(s): Horton WA, Hecht JT, Hood OJ, Marshall RN, Moore WV, Hollowell JG. Source: American Journal of Medical Genetics. 1992 March 1; 42(5): 667-70. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1632435&dopt=Abstract

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Growth of the foramen magnum in achondroplasia. Author(s): Hecht JT, Horton WA, Reid CS, Pyeritz RE, Chakraborty R. Source: American Journal of Medical Genetics. 1989 April; 32(4): 528-35. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2773998&dopt=Abstract

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Growth plate cartilage studies in achondroplasia. Author(s): Horton WA, Hood OJ, Machado MA, Campbell D. Source: Basic Life Sci. 1988; 48: 81-9. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3240287&dopt=Abstract

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Growth-promoting effect of human growth hormone on patients with achondroplasia. Author(s): Okabe T, Nishikawa K, Miyamori C, Sato T. Source: Acta Paediatr Jpn. 1991 June; 33(3): 357-62. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1785332&dopt=Abstract

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Head growth in achondroplasia: use of ultrasound studies. Author(s): Hall JG, Horton W, Kelly T, Scott CI. Source: American Journal of Medical Genetics. 1982 September; 13(1): 105. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7137217&dopt=Abstract

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Hearing loss and temporal bone structure in achondroplasia. Author(s): Shohat M, Flaum E, Cobb SR, Lachman R, Rubin C, Ash C, Rimoin DL. Source: American Journal of Medical Genetics. 1993 March 1; 45(5): 548-51. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8456822&dopt=Abstract

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Hirschsprung's disease associated with a variant form of achondroplasia, in sister and brother. Author(s): Roberts PA, Mann TP, Rubin J. Source: Proc R Soc Med. 1969 April; 62(4): 329. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5811938&dopt=Abstract

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Histochemical and ultrastructural study of the growth plate in achondroplasia. Author(s): Ippolito E, Maynard JA, Mickelson MR, Ponseti IV. Source: Basic Life Sci. 1988; 48: 61-71. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3240286&dopt=Abstract

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Histochemistry and ultrastructure of the growth plate in achondroplasia. Author(s): Maynard JA, Ippolito EG, Ponseti IV, Mickelson MR. Source: The Journal of Bone and Joint Surgery. American Volume. 1981 July; 63(6): 96979. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6165726&dopt=Abstract

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Histological and histochemical investigations of achondroplastic mice: a possible model of human achondroplasia. Author(s): Bonucci E, Marco AD, Nicoletti B, Petrinelli P, Pozzi L. Source: Growth. 1976 September; 40(3): 241-51. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=976768&dopt=Abstract

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Homozygosity for achondroplasia? Report of a possible case, with congenital heart disease and severe mental deficit. Author(s): Morgan BC, Graham CB, Aase JM. Source: Pediatrics. 1970 January; 45(1): 112-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5410232&dopt=Abstract

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Homozygous achondroplasia with survival beyond infancy. Author(s): Pauli RM, Conroy MM, Langer LO Jr, McLone DG, Naidich T, Franciosi R, Ratner IM, Copps SC. Source: American Journal of Medical Genetics. 1983 December; 16(4): 459-73. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6660245&dopt=Abstract

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Homozygous achondroplasia: morphologic and biochemical study of cartilage. Author(s): Stanescu R, Stanescu V, Maroteaux P. Source: American Journal of Medical Genetics. 1990 November; 37(3): 412-21. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2260574&dopt=Abstract

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Homozygous achondroplasia: US distinction between homozygous, heterozygous, and unaffected fetuses in the second trimester. Author(s): Patel MD, Filly RA. Source: Radiology. 1995 August; 196(2): 541-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7617874&dopt=Abstract

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Human achondroplasia: defective mitochondrial oxidative energy metabolism may produce the pathophysiology. Author(s): Mackler B, Shepard TH. Source: Teratology. 1989 December; 40(6): 571-82. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2560262&dopt=Abstract

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Human growth hormone treatment in prepubertal children with achondroplasia. Author(s): Weber G, Prinster C, Meneghel M, Russo F, Mora S, Puzzovio M, Del Maschio M, Chiumello G. Source: American Journal of Medical Genetics. 1996 February 2; 61(4): 396-400. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8834055&dopt=Abstract

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Hydrocephalus and achondroplasia. A study of 25 observations. Author(s): Pierre-Kahn A, Hirsch JF, Renier D, Metzger J, Maroteaux P. Source: Childs Brain. 1980; 7(4): 205-19. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7438842&dopt=Abstract

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Hydrocephalus and chronically increased intracranial pressure in achondroplasia. Author(s): Erdincler P, Dashti R, Kaynar MY, Canbaz B, Ciplak N, Kuday C. Source: Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery. 1997 June; 13(6): 345-8. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9272288&dopt=Abstract

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Hydrocephalus in achondroplasia studied by cisternography. Author(s): James AE Jr, Dorst JP, Mathews ES, McKusick VA. Source: Pediatrics. 1972 January; 49(1): 46-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5059311&dopt=Abstract

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Hydrocephalus in achondroplasia. Author(s): Wise BL. Source: Journal of Neurosurgery. 1981 October; 55(4): 662-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7277018&dopt=Abstract

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Hydrocephalus in achondroplasia: a possible mechanism. Author(s): Friedman WA, Mickle JP. Source: Neurosurgery. 1980 August; 7(2): 150-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7422111&dopt=Abstract

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Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension. Author(s): Steinbok P, Hall J, Flodmark O. Source: Journal of Neurosurgery. 1989 July; 71(1): 42-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2786928&dopt=Abstract

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Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia. Author(s): Loughlin J, Irven C, Mustafa Z, Briggs MD, Carr A, Lynch SA, Knowlton RG, Cohn DH, Sykes B. Source: Human Mutation. 1998; Suppl 1: S10-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9452026&dopt=Abstract

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Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. Author(s): Deere M, Sanford T, Francomano CA, Daniels K, Hecht JT. Source: American Journal of Medical Genetics. 1999 August 27; 85(5): 486-90. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10405447&dopt=Abstract

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Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia. Author(s): Deere M, Sanford T, Ferguson HL, Daniels K, Hecht JT. Source: American Journal of Medical Genetics. 1998 December 28; 80(5): 510-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9880218&dopt=Abstract

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Impossible direct laryngoscopy in achondroplasia. A case report. Author(s): Mather JS. Source: Anaesthesia. 1966 April; 21(2): 244-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5956576&dopt=Abstract

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In utero analysis of heterozygous achondroplasia: variable time of onset as detected by femur length measurements. Author(s): Kurtz AB, Filly RA, Wapner RJ, Golbus MS, Rifkin MR, Callen PW, Pasto ME. Source: Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine. 1986 March; 5(3): 137-40. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3517360&dopt=Abstract

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Increased carbohydrate-deficient transferrin concentration and abnormal protein glycosylation of unknown etiology in a patient with achondroplasia. Author(s): Assmann B, Hackler R, Peters V, Schaefer JR, Hoffmann GF. Source: Clinical Chemistry. 2000 April; 46(4): 584-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10759489&dopt=Abstract

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Information update on Achondroplasia. Author(s): Hall JG. Source: Pediatrics. 1995 April; 95(4): 620. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7700776&dopt=Abstract

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Intracranial hemorrhage in achondroplasia. Author(s): Gendell HM, Barmada MA, Maroon JC, Wisotzkey H. Source: Surgical Neurology. 1977 October; 8(4): 283-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=898007&dopt=Abstract

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Intrauterine osteogenesis imperfecta with arthrogryposis multiplex and regional achondroplasia. Author(s): Guha DK, Rashmi A, Khanduja PC, Kochlar M. Source: Indian Pediatrics. 1969 December; 6(12): 804-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5402443&dopt=Abstract

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Issues surrounding prenatal genetic testing for achondroplasia. Author(s): Gooding HC, Boehm K, Thompson RE, Hadley D, Francomano CA, Biesecker BB. Source: Prenatal Diagnosis. 2002 October; 22(10): 933-40. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12378581&dopt=Abstract

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Japanese sisters with Pfeiffer syndrome and achondroplasia: a mutation analysis. Author(s): Nagase T, Nagase M, Hirose S, Ohmori K. Source: The Journal of Craniofacial Surgery. 1998 September; 9(5): 477-80. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9780920&dopt=Abstract

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Jugular bulb dehiscence in achondroplasia. Author(s): Pauli RM, Modaff P. Source: International Journal of Pediatric Otorhinolaryngology. 1999 May 5; 48(2): 16974. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10375043&dopt=Abstract

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Kyphosis and lumbar stenosis in achondroplasia. Author(s): Nelson MA. Source: Basic Life Sci. 1988; 48: 305-11. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3240265&dopt=Abstract

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Kyphosis in achondroplasia: probably preventable. Author(s): Hall JG. Source: The Journal of Pediatrics. 1988 January; 112(1): 166-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3335958&dopt=Abstract

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Leg lengthening: patient selection and management in achondroplasia. Author(s): Saleh M, Burton M. Source: The Orthopedic Clinics of North America. 1991 October; 22(4): 589-99. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1945337&dopt=Abstract

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Lengthening of the lower limbs and correction of lumbar hyperlordosis in achondroplasia. Author(s): Vilarrubias JM, Ginebreda I, Jimeno E. Source: Clinical Orthopaedics and Related Research. 1990 January; (250): 143-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2293921&dopt=Abstract

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Lengthening of the lower limbs and correction of lumbar hyperlordosis in achondroplasia. Author(s): Vilarrubias JM, Cavaliere P, Ginebreda I. Source: Basic Life Sci. 1988; 48: 357-71. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3240272&dopt=Abstract

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Lengthening of the lower limbs in patients with achondroplasia and hypochondroplasia. Author(s): Yasui N, Kawabata H, Kojimoto H, Ohno H, Matsuda S, Araki N, Shimomura Y, Ochi T. Source: Clinical Orthopaedics and Related Research. 1997 November; (344): 298-306. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9372781&dopt=Abstract

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Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita. Author(s): Young ID, Ruggins NR, Somers JM, Zuccollo JM, Rutter N. Source: Journal of Medical Genetics. 1992 November; 29(11): 831-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1453438&dopt=Abstract

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Letter: Failure to diagnose achondroplasia in utero. Author(s): Golbus MS, Hall BD. Source: Lancet. 1974 April 6; 1(7858): 629. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4132293&dopt=Abstract

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Letter: Serum somatomedin-C in achondroplasia. Author(s): Horton WA, Rimoin DL, Underwood LE, Van Wyk J. Source: The New England Journal of Medicine. 1976 August 19; 295(8): 453-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=934255&dopt=Abstract

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Letter: Tolbutamide and achondroplasia. Author(s): Blizzard RM, McKusick VA. Source: Jama : the Journal of the American Medical Association. 1974 June 10; 228(11): 1368. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4406604&dopt=Abstract

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Levels of creatine kinase activity in cartilage of tubular and nontubular bone in relation to pathogenesis of achondroplasia. Author(s): Nogami H, Oohira A, Ogasawara N. Source: Clinical Orthopaedics and Related Research. 1987 June; (219): 308-11. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3581582&dopt=Abstract

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Limb lengthening for achondroplasia: early experience. Author(s): Price CT. Source: Journal of Pediatric Orthopedics. 1989 September-October; 9(5): 512-5. Erratum In: J Pediatr Orthop 1989 November-December; 9(6): 733. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2794023&dopt=Abstract

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Limb lengthening in achondroplasia by Ilizarov's method. Author(s): Cattaneo R, Villa A, Catagni M, Tentori L. Source: International Orthopaedics. 1988; 12(3): 173-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3182120&dopt=Abstract

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Limb lengthening in children with achondroplasia. Differences based on gender. Author(s): Ganel A, Horoszowski H. Source: Clinical Orthopaedics and Related Research. 1996 November; (332): 179-83. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8913161&dopt=Abstract

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Linkage of typical pseudoachondroplasia to chromosome 19. Author(s): Hecht JT, Francomano CA, Briggs MD, Deere M, Conner B, Horton WA, Warman M, Cohn DH, Blanton SH. Source: Genomics. 1993 December; 18(3): 661-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8307577&dopt=Abstract

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Living with achondroplasia: attitudes toward population screening and correlation with quality of life. Author(s): Gollust SE, Thompson RE, Gooding HC, Biesecker BB. Source: Prenatal Diagnosis. 2003 December 15; 23(12): 1003-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=14663838&dopt=Abstract

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Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p. Author(s): Francomano CA, Ortiz de Luna RI, Hefferon TW, Bellus GA, Turner CE, Taylor E, Meyers DA, Blanton SH, Murray JC, McIntosh I, et al. Source: Human Molecular Genetics. 1994 May; 3(5): 787-92. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8081365&dopt=Abstract

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Long-term neurological sequelae in achondroplasia. Author(s): Hecht JT, Butler IJ, Scott CI Jr. Source: European Journal of Pediatrics. 1984 November; 143(1): 58-60. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6510432&dopt=Abstract

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Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia. Author(s): Gunthard J, Fliegel C, Ohnacker H, Rutishauser M, Buhler E. Source: Clinical Genetics. 1995 July; 48(1): 35-40. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7586642&dopt=Abstract

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Lung volume histograms after computed tomography of the chest with threedimensional imaging as a method to substantiate successful surgical expansion of the rib cage in achondroplasia. Author(s): Lugo N, Becker J, Van Bosse H, Campbell W, Evans B, Sagy M. Source: Journal of Pediatric Surgery. 1998 May; 33(5): 733-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9607482&dopt=Abstract

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Medical complications of achondroplasia: a multicentre patient review. Author(s): Hunter AG, Bankier A, Rogers JG, Sillence D, Scott CI Jr. Source: Journal of Medical Genetics. 1998 September; 35(9): 705-12. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9733026&dopt=Abstract

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Megalencephaly in thanatophoric dysplasia and in achondroplasia. Author(s): Knisely AS. Source: The Journal of Pediatrics. 1989 December; 115(6): 1026. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2585221&dopt=Abstract

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Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. Author(s): Ross JL, Bellus G, Scott CI Jr, Abboudi J, Grigelioniene G, Zinn AR. Source: American Journal of Medical Genetics. 2003 January 1; 116A(1): 61-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12476453&dopt=Abstract

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Middle ear disease in childhood achondroplasia. Author(s): Berkowitz RG, Grundfast KM, Scott C, Saal H, Stern H, Rosenbaum K. Source: Ear, Nose, & Throat Journal. 1991 May; 70(5): 305-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1914954&dopt=Abstract

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Molecular analysis of a patient with neurofibromatosis 1 and achondroplasia. Author(s): Pulst SM, Pribyl T, Barker DF, Riccardi VM, Ren M, Yaari H, Korenberg JR. Source: American Journal of Medical Genetics. 1991 July 1; 40(1): 84-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1909491&dopt=Abstract

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Molecular defects in achondroplasia and the effects of growth hormone treatment. Author(s): Seino Y, Moriwake T, Tanaka H, Inoue M, Kanzaki S, Tanaka T, Matsuo N, Niimi H. Source: Acta Paediatrica (Oslo, Norway : 1992). Supplement. 1999 February; 88(428): 118-20. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10102070&dopt=Abstract

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Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia. Author(s): James PA, Shaw J, du Sart D, Craig E, Bateman JF, Savarirayan R. Source: Prenatal Diagnosis. 2003 October; 23(10): 861-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=14558035&dopt=Abstract

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Molecular diagnosis is important to confirm suspected pseudoachondroplasia. Author(s): Newman B, Donnah D, Briggs MD. Source: Journal of Medical Genetics. 2000 January; 37(1): 64-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10691412&dopt=Abstract

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Mosaicism in pseudoachondroplasia. Author(s): Ferguson HL, Deere M, Evans R, Rotta J, Hall JG, Hecht JT. Source: American Journal of Medical Genetics. 1997 June 13; 70(3): 287-91. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9188668&dopt=Abstract

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Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein. Author(s): Susic S, McGrory J, Ahier J, Cole WG. Source: Clinical Genetics. 1997 April; 51(4): 219-24. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9184241&dopt=Abstract

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Mutation in the gene encoding the fibroblast growth factor receptor-3 in Korean children with achondroplasia. Author(s): Yang SW, Kitoh H, Yamada Y, Goto H, Ogasawara N. Source: Acta Paediatr Jpn. 1998 August; 40(4): 324-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9745773&dopt=Abstract

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Mutations causing achondroplasia and thanatophoric dysplasia alter bFGF-induced calcium signals in human diploid fibroblasts. Author(s): Nguyen HB, Estacion M, Gargus JJ. Source: Human Molecular Genetics. 1997 May; 6(5): 681-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9158142&dopt=Abstract

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Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX. Author(s): Thur J, Rosenberg K, Nitsche DP, Pihlajamaa T, Ala-Kokko L, Heinegard D, Paulsson M, Maurer P. Source: The Journal of Biological Chemistry. 2001 March 2; 276(9): 6083-92. Epub 2000 November 17. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11084047&dopt=Abstract

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Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. Author(s): Hecht JT, Nelson LD, Crowder E, Wang Y, Elder FF, Harrison WR, Francomano CA, Prange CK, Lennon GG, Deere M, et al. Source: Nature Genetics. 1995 July; 10(3): 325-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7670471&dopt=Abstract

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Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. Author(s): Wilkin DJ, Szabo JK, Cameron R, Henderson S, Bellus GA, Mack ML, Kaitila I, Loughlin J, Munnich A, Sykes B, Bonaventure J, Francomano CA. Source: American Journal of Human Genetics. 1998 September; 63(3): 711-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9718331&dopt=Abstract

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Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data. Author(s): Tsai FJ, Tsai CH, Chang JG, Wu JY. Source: American Journal of Medical Genetics. 1999 September 17; 86(3): 300-1. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10482885&dopt=Abstract

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Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Author(s): Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M, Munnich A. Source: Nature. 1994 September 15; 371(6494): 252-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8078586&dopt=Abstract

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Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Author(s): Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ. Source: Cell. 1994 July 29; 78(2): 335-42. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7913883&dopt=Abstract

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Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia. Author(s): Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M, Munnich A. Source: Hormone Research. 1996; 45(1-2): 108-10. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8742128&dopt=Abstract

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Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients. Author(s): Ikegawa S, Fukushima Y, Isomura M, Takada F, Nakamura Y. Source: Human Genetics. 1995 September; 96(3): 309-11. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7649548&dopt=Abstract

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Narrowing of thoraco-lumbar spinal canal in achondroplasia. Author(s): Fortuna A, Ferrante L, Acqui M, Santoro A, Mastronardi L. Source: Journal of Neurosurgical Sciences. 1989 April-June; 33(2): 185-96. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2677264&dopt=Abstract

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Neuroanatomic and neuropsychological outcome in school-age children with achondroplasia. Author(s): Thompson NM, Hecht JT, Bohan TP, Kramer LA, Davidson K, Brandt ME, Fletcher JM. Source: American Journal of Medical Genetics. 1999 April 16; 88(2): 145-53. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10206234&dopt=Abstract

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Neuroblastoma in a dwarfed newborn. Possible clue to the chromosomal localization of the gene for achondroplasia? Author(s): Verloes A, Massart B, Jossa V, Langhendries JP, Hainaut H, Paquot JP, Koulischer L. Source: Annales De Genetique. 1991; 34(1): 25-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1952787&dopt=Abstract

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Neurologic morbidity associated with achondroplasia. Author(s): Hecht JT, Butler IJ. Source: Journal of Child Neurology. 1990 April; 5(2): 84-97. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2161033&dopt=Abstract

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Neurological abnormalities in achondroplasia. Author(s): Critchley E. Source: Developmental Medicine and Child Neurology. 1968 February; 10(1): 104-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5643337&dopt=Abstract

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Neurological basis of respiratory complications in achondroplasia. Author(s): Nelson FW, Hecht JT, Horton WA, Butler IJ, Goldie WD, Miner M. Source: Annals of Neurology. 1988 July; 24(1): 89-93. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3415202&dopt=Abstract

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Neurological complications and myelographic features of achondroplasia. Author(s): Galanski M, Herrmann R, Knoche U. Source: Neuroradiology. 1978 November 24; 17(1): 59-63. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=752129&dopt=Abstract

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Neurological considerations in achondroplasia. Author(s): Hurko O, Pyeritz R, Uematsu S. Source: Basic Life Sci. 1988; 48: 153-62. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3240245&dopt=Abstract

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Neurological manifestations of pediatric achondroplasia. Author(s): Yamada H, Nakamura S, Tajima M, Kageyama N. Source: Journal of Neurosurgery. 1981 January; 54(1): 49-57. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7463120&dopt=Abstract

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Neurological symptoms in achondroplasia. Author(s): Bergstrom K, Laurent U, Lundberg PO. Source: Acta Neurologica Scandinavica. 1971; 47(1): 59-70. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5576220&dopt=Abstract

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Newly synthesized proteoglycans in pseudoachondroplasia. Author(s): Beck M, Lingnau K, Spranger J. Source: Bone. 1988; 9(6): 367-70. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3248200&dopt=Abstract

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Nonrandom association of a type II procollagen genotype with achondroplasia. Author(s): Eng CE, Pauli RM, Strom CM. Source: Proceedings of the National Academy of Sciences of the United States of America. 1985 August; 82(16): 5465-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2991928&dopt=Abstract

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Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. Author(s): Ikegawa S, Ohashi H, Nishimura G, Kim KC, Sannohe A, Kimizuka M, Fukushima Y, Nagai T, Nakamura Y. Source: Human Genetics. 1998 December; 103(6): 633-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9921895&dopt=Abstract

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Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia. Author(s): Mabuchi A, Haga N, Ikeda T, Manabe N, Ohashi H, Takatori Y, Nakamura K, Ikegawa S. Source: American Journal of Medical Genetics. 2001 November 22; 104(2): 135-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11746044&dopt=Abstract

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Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia. Author(s): Nakayama H, Endo Y, Aota S, Sato M, Fujita T, Kikuchi S. Source: Oncol Rep. 2003 July-August; 10(4): 871-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12792737&dopt=Abstract

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Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. Author(s): Mabuchi A, Manabe N, Haga N, Kitoh H, Ikeda T, Kawaji H, Tamai K, Hamada J, Nakamura S, Brunetti-Pierri N, Kimizuka M, Takatori Y, Nakamura K, Nishimura G, Ohashi H, Ikegawa S. Source: Human Genetics. 2003 January; 112(1): 84-90. Epub 2002 October 29. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12483304&dopt=Abstract

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Obesity in achondroplasia. Author(s): Hecht JT, Hood OJ, Schwartz RJ, Hennessey JC, Bernhardt BA, Horton WA. Source: American Journal of Medical Genetics. 1988 November; 31(3): 597-602. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3228140&dopt=Abstract

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Observations on the cause of bowlegs in achondroplasia. Author(s): Stanley G, McLoughlin S, Beals RK. Source: Journal of Pediatric Orthopedics. 2002 January-February; 22(1): 112-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11744865&dopt=Abstract

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Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. Author(s): McKusick VA, Kelly TE, Dorst JP. Source: Journal of Medical Genetics. 1973 March; 10(1): 11-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4697848&dopt=Abstract

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Obstructive sleep apnea in children with achondroplasia: surgical and anesthetic considerations. Author(s): Sisk EA, Heatley DG, Borowski BJ, Leverson GE, Pauli RM. Source: Otolaryngology and Head and Neck Surgery. 1999 February; 120(2): 248-54. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9949360&dopt=Abstract

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Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. Author(s): Camera G, Baldi M, Strisciuglio G, Concolino D, Mastroiacovo P, Baffico M. Source: American Journal of Medical Genetics. 2001 December 15; 104(4): 277-81. Erratum In: Am J Med Genet 2002 June 15; 110(2): 193. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11754059&dopt=Abstract

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Optometric screening in achondroplasia, diastrophic dysplasia, and spondyloepiphyseal dysplasia congenita. Author(s): Griffin JR, Ault JE, Sillence DO, Rimoin DL. Source: Am J Optom Physiol Opt. 1980 February; 57(2): 118-23. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6769335&dopt=Abstract

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Orthodontic treatment of Class II division 1 malocclusion in a patient with achondroplasia. Author(s): Ohba T, Ohba Y, Tenshin S, Takano-Yamamoto T. Source: Angle Orthod. 1998 August; 68(4): 377-82. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9709839&dopt=Abstract

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Orthopaedic aspects of achondroplasia. Author(s): Bailey JA 2nd. Source: The Journal of Bone and Joint Surgery. American Volume. 1970 October; 52(7): 1285-301. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5472902&dopt=Abstract

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Orthopedic aspects of achondroplasia in children. Author(s): Kopits SE. Source: Basic Life Sci. 1988; 48: 189-97. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3240253&dopt=Abstract

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Osteomyelitis variolosa simulating achondroplasia. Author(s): Mohindra Y, Tuli SM. Source: Indian J Pediatr. 1969 February; 36(253): 48-9. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5783822&dopt=Abstract

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Otologic impairments in achondroplasia: a nosologic assessment. Author(s): Pinelli V, Masi R, Partipilo P, Pierro V, Tieri L. Source: Basic Life Sci. 1988; 48: 149-52. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3240244&dopt=Abstract

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Overnight growth hormone secretion in achondroplasia: deconvolution analysis, correlation with sleep state, and changes after treatment of obstructive sleep apnea. Author(s): Waters KA, Kirjavainen T, Jimenez M, Cowell CT, Sillence DO, Sullivan CE. Source: Pediatric Research. 1996 March; 39(3): 547-53. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8929879&dopt=Abstract

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Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank type. Author(s): Langer LO Jr, Schaefer GB, Wadsworth DT. Source: American Journal of Medical Genetics. 1993 October 1; 47(5): 772-81. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8267011&dopt=Abstract

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Pediatric patients with achondroplasia: CT evaluation of the craniocervical junction. Author(s): Wang H, Rosenbaum AE, Reid CS, Zinreich SJ, Pyeritz RE. Source: Radiology. 1987 August; 164(2): 515-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3602395&dopt=Abstract

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Perioperative intracranial hemorrhage in achondroplasia: a case report. Author(s): Elmaci I, Ain MC, Wright MJ, Lee RR, Sheppard JM, Rigamonti D, Hurko O. Source: Journal of Neurosurgical Anesthesiology. 2000 July; 12(3): 217-20. Erratum In: J Neurosurg Anesthesiol 2001 January; 13(1): 59. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10905569&dopt=Abstract

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Polycystic kidney disease in a patient with achondroplasia: case report. Author(s): McLigeyo SO, Kisiangani GS. Source: East Afr Med J. 2003 January; 80(1): 56-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12755243&dopt=Abstract

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Polyhydramnios: a predictor of severe growth impairment in achondroplasia. Author(s): Latini G, De Felice C, Parrini S, Verrotti A, Di Maggio G, Petraglia F. Source: The Journal of Pediatrics. 2002 August; 141(2): 274-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12183727&dopt=Abstract

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Posterior fossa decompression without duraplasty in infants and young children for treatment of Chiari malformation and achondroplasia. Author(s): Yundt KD, Park TS, Tantuwaya VS, Kaufman BA. Source: Pediatric Neurosurgery. 1996 November; 25(5): 221-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9309784&dopt=Abstract

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Prediction of the growth in patients with achondroplasia. Author(s): Zemkova D, Krasnicanova H, Marik I. Source: Arztl Jugendkd. 1991; 82(2): 113-4. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1759634&dopt=Abstract

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Predominance of the mutation at 1138 of the cDNA for the fibroblast growth factor receptor 3 in Japanese patients with achondroplasia. Author(s): Tonoki H, Nakae J, Tajima T, Shinohara N, Monji J, Satoh S, Fujieda K. Source: Jpn J Hum Genet. 1995 December; 40(4): 347-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8851771&dopt=Abstract

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Preimplantation genetic diagnosis for achondroplasia: genetics and gynaecological limits and difficulties. Author(s): Moutou C, Rongieres C, Bettahar-Lebugle K, Gardes N, Philippe C, Viville S. Source: Human Reproduction (Oxford, England). 2003 March; 18(3): 509-14. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12615816&dopt=Abstract

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Premutation in achondroplasia. Author(s): Opitz JM. Source: Basic Life Sci. 1988; 48: 17-25. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3240248&dopt=Abstract

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Prenatal diagnosis of achondroplasia using the nested polymerase chain reaction with modified primer sets. Author(s): Sawai H, Komori S, Tanaka H, Bessho T, Koyama K. Source: Fetal Diagnosis and Therapy. 1996 November-December; 11(6): 407-13. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9115628&dopt=Abstract

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Prenatal ultrasonographic demonstration of the trident hand in heterozygous achondroplasia. Author(s): Guzman ER, Day-Salvatore D, Westover T, Rosenberg JC, Beim D, Grabelle H. Source: Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine. 1994 January; 13(1): 63-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7636958&dopt=Abstract

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Prevention of fixed, angular kyphosis in achondroplasia. Author(s): Pauli RM, Breed A, Horton VK, Glinski LP, Reiser CA. Source: Journal of Pediatric Orthopedics. 1997 November-December; 17(6): 726-33. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9591973&dopt=Abstract

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Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. Author(s): Pauli RM, Horton VK, Glinski LP, Reiser CA. Source: American Journal of Human Genetics. 1995 March; 56(3): 732-44. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7887429&dopt=Abstract

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Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Author(s): Briggs MD, Hoffman SM, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, Rimoin DL, Lachman RS, Gaines ES, et al. Source: Nature Genetics. 1995 July; 10(3): 330-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7670472&dopt=Abstract

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Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Author(s): Briggs MD, Chapman KL. Source: Human Mutation. 2002 May; 19(5): 465-78. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11968079&dopt=Abstract

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Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. Author(s): Unger S, Hecht JT. Source: American Journal of Medical Genetics. 2001 Winter; 106(4): 244-50. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11891674&dopt=Abstract

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Pseudoachondroplasia due to the substitution of the highly conserved Asp482 by Gly in the seventh calmodulin-like repeat of cartilage oligomeric matrix protein. Author(s): Susic S, Ahier J, Cole WG. Source: Human Mutation. 1998; Suppl 1: S125-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9452063&dopt=Abstract

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Pseudoachondroplasia with cerebral and renal cysts. Author(s): Stoll C. Source: Genet Couns. 2002; 13(2): 139-46. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12150213&dopt=Abstract

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Pseudoachondroplasia with immune deficiency. Author(s): Kultursay N, Taneli B, Cavusoglu A. Source: Pediatric Radiology. 1988; 18(6): 505-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3263611&dopt=Abstract

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Radiographic features of the bones of the hand and wrist in achondroplasia: report of case. Author(s): So LL, King NM. Source: Asdc J Dent Child. 1991 September-October; 58(5): 396-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1939806&dopt=Abstract

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Radiologic features of achondroplasia. Author(s): Silverman FN. Source: Basic Life Sci. 1988; 48: 31-44. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3240266&dopt=Abstract

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Recurrence risk for sibs of children with “sporadic” achondroplasia. Author(s): Mettler G, Fraser FC. Source: American Journal of Medical Genetics. 2000 January 31; 90(3): 250-1. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10678665&dopt=Abstract

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Relevant principles in the management of spinal disorders in achondroplasia. Author(s): O'Brien JP, Mehdian H. Source: Basic Life Sci. 1988; 48: 293-8. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3240264&dopt=Abstract

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Reoperation for spinal restenosis in achondroplasia. Author(s): Ain MC, Elmaci I, Hurko O, Clatterbuck RE, Lee RR, Rigamonti D. Source: Journal of Spinal Disorders. 2000 April; 13(2): 168-73. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10780694&dopt=Abstract

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Respiratory complications of achondroplasia. Author(s): Stokes DC, Phillips JA, Leonard CO, Dorst JP, Kopits SE, Trojak JE, Brown DL. Source: The Journal of Pediatrics. 1983 April; 102(4): 534-41. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6834188&dopt=Abstract

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Retention of cartilage oligomeric matrix protein (COMP) and cell death in redifferentiated pseudoachondroplasia chondrocytes. Author(s): Hecht JT, Montufar-Solis D, Decker G, Lawler J, Daniels K, Duke PJ. Source: Matrix Biology : Journal of the International Society for Matrix Biology. 1998 December; 17(8-9): 625-33. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9923655&dopt=Abstract

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Reversibility of deficient sleep entrained growth hormone secretion in a boy with achondroplasia and obstructive sleep apnea. Author(s): Goldstein SJ, Wu RH, Thorpy MJ, Shprintzen RJ, Marion RE, Saenger P. Source: Acta Endocrinol (Copenh). 1987 September; 116(1): 95-101. Erratum In: Acta Endocrinol (Copenh) 1987 December; 116(4): 568. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3661058&dopt=Abstract

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Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. Author(s): Bellus GA, Bamshad MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, Jabs EW, Curry CJ, Wilcox WR, Lachman RS, Rimoin DL, Francomano CA. Source: American Journal of Medical Genetics. 1999 July 2; 85(1): 53-65. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10377013&dopt=Abstract

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Severe pseudoachondroplasia in a mother and her son. Author(s): Marik I, Kozlowski K. Source: Radiol Med (Torino). 1998 July-August; 96(1-2): 98-100. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9819626&dopt=Abstract

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Severe pulmonary hypertension in an infant with achondroplasia. Author(s): Ito T, Sawaishi Y, Ito Y, Sugawara A. Source: Lancet. 2001 September 29; 358(9287): 1062. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11589938&dopt=Abstract

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Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia. Author(s): Shohat M, Tick D, Barakat S, Bu X, Melmed S, Rimoin DL. Source: The Journal of Clinical Endocrinology and Metabolism. 1996 November; 81(11): 4033-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8923856&dopt=Abstract

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Skeletal development of achondroplasia: analysis of genotyped patients. Author(s): Matsui Y, Kawabata H, Ozono K, Yasui N. Source: Pediatrics International : Official Journal of the Japan Pediatric Society. 2001 August; 43(4): 361-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11472579&dopt=Abstract

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Sleep and upper airway obstruction in children with achondroplasia. Author(s): Zucconi M, Weber G, Castronovo V, Ferini-Strambi L, Russo F, Chiumello G, Smirne S. Source: The Journal of Pediatrics. 1996 November; 129(5): 743-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8917243&dopt=Abstract

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Sleep-disordered breathing in children with achondroplasia. Author(s): Mogayzel PJ Jr, Carroll JL, Loughlin GM, Hurko O, Francomano CA, Marcus CL. Source: The Journal of Pediatrics. 1998 April; 132(4): 667-71. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9580768&dopt=Abstract

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Social implications of achondroplasia--a public health review. Author(s): Vetere C. Source: Basic Life Sci. 1988; 48: 457-9. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3240283&dopt=Abstract

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Social implications of achondroplasia--a public health view. Author(s): Shakespeare WG. Source: Basic Life Sci. 1988; 48: 453-5. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3240282&dopt=Abstract

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Sonographic prenatal diagnosis of heterozygous achondroplasia: a case report. Author(s): J Ultrasound Med. 1994 Dec;13(12):977-85 Source: J Med Assoc Thai. 1994 October; 77(10): 549-53. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7877211

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Spinal compression in achondroplasia. Author(s): Hancock DO, Philips DG. Source: Paraplegia. 1965 May; 3(1): 23-33. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5829900&dopt=Abstract

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Spinal dysraphism in achondroplasia. Author(s): Phadke RV, Phadke SR, Chakravarti AL. Source: Pediatric Neurosurgery. 1990-91; 16(1): 32-4; Discussion 34. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2133408&dopt=Abstract

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Spirometry and chest wall dimensions in achondroplasia. Author(s): Stokes DC, Pyeritz RE, Wise RA, Fairclough D, Murphy EA. Source: Chest. 1988 February; 93(2): 364-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3338305&dopt=Abstract

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Standard curves of chest circumference in achondroplasia and the relationship of chest circumference to respiratory problems. Author(s): Hunter AG, Reid CS, Pauli RM, Scott CI Jr. Source: American Journal of Medical Genetics. 1996 March 1; 62(1): 91-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8779333&dopt=Abstract

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Standard weight for height curves in achondroplasia. Author(s): Hunter AG, Hecht JT, Scott CI Jr. Source: American Journal of Medical Genetics. 1996 March 29; 62(3): 255-61. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8882783&dopt=Abstract

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Stenosis of the spinal canal in achondroplasia. Author(s): Ferrante L, Acqui M, Mastronardi L, Celli P, Fortuna A. Source: Italian Journal of Neurological Sciences. 1991 August; 12(4): 371-5. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1791130&dopt=Abstract

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Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. Author(s): Schweitzer DN, Graham JM Jr, Lachman RS, Jabs EW, Okajima K, Przylepa KA, Shanske A, Chen K, Neidich JA, Wilcox WR. Source: American Journal of Medical Genetics. 2001 January 1; 98(1): 75-91. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11426459&dopt=Abstract

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Surgical intervention in achondroplasia. Author(s): Pauli RM. Source: American Journal of Human Genetics. 1995 June; 56(6): 1501-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7762574&dopt=Abstract

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Surgical management of cervicomedullary compression in achondroplasia. Author(s): Yamada Y, Ito H, Otsubo Y, Sekido K. Source: Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery. 1996 December; 12(12): 737-41. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9118140&dopt=Abstract

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Surgical treatment of lumbar stenosis in achondroplasia. Author(s): Thomeer RT, van Dijk JM. Source: Journal of Neurosurgery. 2002 April; 96(3 Suppl): 292-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11990837&dopt=Abstract

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The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17. Author(s): Pulst SM, Graham JM Jr, Fain P, Barker D, Pribyl T, Korenberg JR. Source: Human Genetics. 1990 June; 85(1): 12-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2162805&dopt=Abstract

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The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia. Author(s): Tanaka N, Katsumata N, Horikawa R, Tanaka T. Source: Endocrine Journal. 2003 February; 50(1): 69-75. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12733711&dopt=Abstract

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The diameter of callus in leg lengthening: 28 tibial lengthenings in 14 patients with achondroplasia. Author(s): Mamada K, Nakamura K, Matsushita T, Okazaki H, Shiro R, Ou W, Tanaka K, Kurokawa T. Source: Acta Orthopaedica Scandinavica. 1998 June; 69(3): 306-10. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9703409&dopt=Abstract

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The fate of cartilage oligomeric matrix protein is determined by the cell type in the case of a novel mutation in pseudoachondroplasia. Author(s): Maddox BK, Keene DR, Sakai LY, Charbonneau NL, Morris NP, Ridgway CC, Boswell BA, Sussman MD, Horton WA, Bachinger HP, Hecht JT. Source: The Journal of Biological Chemistry. 1997 December 5; 272(49): 30993-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9388247&dopt=Abstract

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The gene for achondroplasia maps to the telomeric region of chromosome 4p. Author(s): Velinov M, Slaugenhaupt SA, Stoilov I, Scott CI Jr, Gusella JF, Tsipouras P. Source: Nature Genetics. 1994 March; 6(3): 314-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8012397&dopt=Abstract

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The lungs and airways in achondroplasia. Do little people have little lungs? Author(s): Stokes DC, Wohl ME, Wise RA, Pyeritz RE, Fairclough DL. Source: Chest. 1990 July; 98(1): 145-52. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2361382&dopt=Abstract

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The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Author(s): Vajo Z, Francomano CA, Wilkin DJ. Source: Endocrine Reviews. 2000 February; 21(1): 23-39. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10696568&dopt=Abstract

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The neurological complications of achondroplasia. Author(s): Gordon N. Source: Brain & Development. 2000 January; 22(1): 3-7. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10761826&dopt=Abstract

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The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect. Author(s): Tiemann-Boege I, Navidi W, Grewal R, Cohn D, Eskenazi B, Wyrobek AJ, Arnheim N. Source: Proceedings of the National Academy of Sciences of the United States of America. 2002 November 12; 99(23): 14952-7. Epub 2002 October 23. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12397172&dopt=Abstract

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The prospective management of cervicomedullary compression in achondroplasia. Author(s): Thomas IT, Frias JL. Source: Birth Defects Orig Artic Ser. 1989; 25(4): 83-90. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2697385&dopt=Abstract

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The psychodynamics of achondroplasia. Author(s): Ancona L. Source: Basic Life Sci. 1988; 48: 447-51. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3240281&dopt=Abstract

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The skull in achondroplasia. Author(s): Spranger J. Source: Basic Life Sci. 1988; 48: 103-7. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3240239&dopt=Abstract

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The unreliability of metacarpo-phalangeal profile (MPP) in the diagnosis of achondroplasia. Author(s): Pallotta R, Castiglione M, Nardi R, Carlone G. Source: Basic Life Sci. 1988; 48: 179-81. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3240251&dopt=Abstract

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The use of gated cine phase contrast and MR venography in achondroplasia. Author(s): Rollins N, Booth T, Shapiro K. Source: Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery. 2000 September; 16(9): 569-75; Discussion 575-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11048631&dopt=Abstract

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Therapy-resistant papilledema in achondroplasia. Author(s): Landau K, Gloor BP. Source: Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society. 1994 March; 14(1): 24-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8032476&dopt=Abstract

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Three-dimensional sonographic aspects in the antenatal diagnosis of achondroplasia. Author(s): Moeglin D, Benoit B. Source: Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology. 2001 July; 18(1): 81-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11489233&dopt=Abstract

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Treatment of kyphosis and lumbar stenosis in achondroplasia. Author(s): Lonstein JE. Source: Basic Life Sci. 1988; 48: 283-92. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3240263&dopt=Abstract

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Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials. Author(s): Waters KA, Everett F, Sillence DO, Fagan ER, Sullivan CE. Source: American Journal of Medical Genetics. 1995 December 4; 59(4): 460-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8585566&dopt=Abstract

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Trigeminal neuralgia associated with achondroplasia. Case report with literature review. Author(s): Takada Y, Morimoto T, Sugawara T, Ohno K. Source: Acta Neurochirurgica. 2001 November; 143(11): 1173-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11731870&dopt=Abstract

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Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia. Author(s): Woods CG, Rogers JG, Mayne V. Source: Journal of Medical Genetics. 1994 July; 31(7): 565-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7966194&dopt=Abstract

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Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks' gestation. Author(s): Cordone M, Lituania M, Bocchino G, Passamonti U, Toma P, Camera G. Source: Prenatal Diagnosis. 1993 May; 13(5): 395-401. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8341638&dopt=Abstract

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Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia. Author(s): Mesoraca A, Pilu G, Perolo A, Novelli G, Salfi N, Lucchi A, Bovicelli L, Dallapiccola B. Source: Prenatal Diagnosis. 1996 August; 16(8): 764-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8878289&dopt=Abstract

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Unexpected death of children with achondroplasia after the perinatal period. Author(s): Bland JD, Emery JL. Source: Developmental Medicine and Child Neurology. 1982 August; 24(4): 489-92. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7117707&dopt=Abstract

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Upper cervical myelopathy in achondroplasia. Author(s): Yang SS, Corbett DP, Brough AJ, Heidelberger KP, Bernstein J. Source: American Journal of Clinical Pathology. 1977 July; 68(1): 68-72. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=868806&dopt=Abstract

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Urine leakage from the umbilicus in a child with achondroplasia and tetraplegia (due to cervical stenosis): a safety vent for the obstructed neuropathic bladder. Author(s): Krishnan KR, Vaidyanathan S, Soni BM, Watt JW. Source: International Urology and Nephrology. 1997; 29(1): 45-51. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9203037&dopt=Abstract

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Variation of quantitative and qualitative changes of enchondral ossification in heterozygous achondroplasia. Author(s): Briner J, Giedion A, Spycher MA. Source: Pathology, Research and Practice. 1991 March; 187(2-3): 271-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1906169&dopt=Abstract

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Vascular malformations of the brain in achondroplasia. Case report. Author(s): Pau A, Orunesu G. Source: Acta Neurochirurgica. 1979; 50(3-4): 289-92. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=517198&dopt=Abstract

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Ventricular size and intelligence in achondroplasia. Author(s): Priestley BL, Lorber J. Source: Z Kinderchir. 1981 December; 34(4): 320-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7331541&dopt=Abstract

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CHAPTER 2. NUTRITION AND ACHONDROPLASIA Overview In this chapter, we will show you how to find studies dedicated specifically to nutrition and achondroplasia.

Finding Nutrition Studies on Achondroplasia The National Institutes of Health’s Office of Dietary Supplements (ODS) offers a searchable bibliographic database called the IBIDS (International Bibliographic Information on Dietary Supplements; National Institutes of Health, Building 31, Room 1B29, 31 Center Drive, MSC 2086, Bethesda, Maryland 20892-2086, Tel: 301-435-2920, Fax: 301-480-1845, E-mail: [email protected]). The IBIDS contains over 460,000 scientific citations and summaries about dietary supplements and nutrition as well as references to published international, scientific literature on dietary supplements such as vitamins, minerals, and botanicals.7 The IBIDS includes references and citations to both human and animal research studies. As a service of the ODS, access to the IBIDS database is available free of charge at the following Web address: http://ods.od.nih.gov/databases/ibids.html. After entering the search area, you have three choices: (1) IBIDS Consumer Database, (2) Full IBIDS Database, or (3) Peer Reviewed Citations Only. Now that you have selected a database, click on the “Advanced” tab. An advanced search allows you to retrieve up to 100 fully explained references in a comprehensive format. Type “achondroplasia” (or synonyms) into the search box, and click “Go.” To narrow the search, you can also select the “Title” field.

7 Adapted from http://ods.od.nih.gov. IBIDS is produced by the Office of Dietary Supplements (ODS) at the National Institutes of Health to assist the public, healthcare providers, educators, and researchers in locating credible, scientific information on dietary supplements. IBIDS was developed and will be maintained through an interagency partnership with the Food and Nutrition Information Center of the National Agricultural Library, U.S. Department of Agriculture.

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The following information is typical of that found when using the “Full IBIDS Database” to search for “achondroplasia” (or a synonym): •

Achondroplasia: recent advances in diagnosis and treatment. Author(s): Department of Pediatrics, Okayama University Medical School, Japan. Source: Tanaka, H Acta-Paediatr-Jpn. 1997 August; 39(4): 514-20 0374-5600

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Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia. Author(s): Department of Pediatrics, Johns Hopkins University, Baltimore, MD. Source: Finkelstein, J E Doege, K Yamada, Y Pyeritz, R E Graham, J M Moeschler, J B Pauli, R M Hecht, J T Francomano, C A Am-J-Hum-Genet. 1991 January; 48(1): 97-102 0002-9297

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Effect of growth hormone therapy in children with achondroplasia: growth pattern, hypothalamic-pituitary function, and genotype. Author(s): Department of Pediatrics, Okayama University Medical School, Japan. Source: Tanaka, H Kubo, T Yamate, T Ono, T Kanzaki, S Seino, Y Eur-J-Endocrinol. 1998 March; 138(3): 275-80 0804-4643

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Growth and growth hormone therapy in children with achondroplasia: a two-year experience. Author(s): Department of Pediatrics, Faculty of Nursing, University of Athens, Greece. Source: Stamoyannou, L Karachaliou, F Neou, P Papataxiarchou, K Pistevos, G Bartsocas, C S Am-J-Med-Genet. 1997 October 3; 72(1): 71-6 0148-7299

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Growth hormone (GH) treatment in achondroplasia. Author(s): Department of Pediatrics, Okayama University Medical School, Japan. Source: Yamate, T Kanzaki, S Tanaka, H Kubo, T Moriwake, T Inoue, M Seino, Y JPediatr-Endocrinol. 1993 Jan-March; 6(1): 45-52 0334-018X

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Growth hormone therapy in achondroplasia. Author(s): Department of Pediatrics, Hiroshima Red Cross Hospital, Japan. Source: Nishi, Y Kajiyama, M Miyagawa, S Fujiwara, M Hamamoto, K Acta-Endocrinol(Copenh). 1993 May; 128(5): 394-6 0001-5598

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Growth-promoting effect of human growth hormone on patients with achondroplasia. Author(s): Department of Pediatrics, School of Medicine, Kanazawa University, Japan. Source: Okabe, T Nishikawa, K Miyamori, C Sato, T Acta-Paediatr-Jpn. 1991 June; 33(3): 357-62 0374-5600

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Homozygous achondroplasia: morphologic and biochemical study of cartilage. Author(s): CNRS URA.584, Hopital des Enfants-Malades, Paris, France. Source: Stanescu, R Stanescu, V Maroteaux, P Am-J-Med-Genet. 1990 November; 37(3): 412-21 0148-7299

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Human growth hormone treatment in prepubertal children with achondroplasia. Author(s): Department of Pediatrics, University of Milan, Italy. Source: Weber, G Prinster, C Meneghel, M Russo, F Mora, S Puzzovio, M Del Maschio, M Chiumello, G Am-J-Med-Genet. 1996 February 2; 61(4): 396-400 0148-7299

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Molecular defects in achondroplasia and the effects of growth hormone treatment. Author(s): Department of Pediatrics, Okayama University Medical School, Japan. Source: Seino, Y Moriwake, T Tanaka, H Inoue, M Kanzaki, S Tanaka, T Matsuo, N Niimi, H Acta-Paediatr-Suppl. 1999 February; 88(428): 118-20 0803-5326

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Newly synthesized proteoglycans in pseudoachondroplasia. Author(s): Department of Pediatrics, University of Mainz, Federal Republic of Germany. Source: Beck, M Lingnau, K Spranger, J Bone. 1988; 9(6): 367-70 8756-3282

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Obesity in achondroplasia. Author(s): University of Texas Health Science Center at Houston. Source: Hecht, J T Hood, O J Schwartz, R J Hennessey, J C Bernhardt, B A Horton, W A Am-J-Med-Genet. 1988 November; 31(3): 597-602 0148-7299

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Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia. Author(s): Medical Genetics Birth Defects Center, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA. Source: Shohat, M Tick, D Barakat, S Bu, X Melmed, S Rimoin, D L J-Clin-EndocrinolMetab. 1996 November; 81(11): 4033-7 0021-972X

Federal Resources on Nutrition In addition to the IBIDS, the United States Department of Health and Human Services (HHS) and the United States Department of Agriculture (USDA) provide many sources of information on general nutrition and health. Recommended resources include: •

healthfinder®, HHS’s gateway to health information, including diet and nutrition: http://www.healthfinder.gov/scripts/SearchContext.asp?topic=238&page=0

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The United States Department of Agriculture’s Web site dedicated to nutrition information: www.nutrition.gov

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The Food and Drug Administration’s Web site for federal food safety information: www.foodsafety.gov

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The National Action Plan on Overweight and Obesity sponsored by the United States Surgeon General: http://www.surgeongeneral.gov/topics/obesity/

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The Center for Food Safety and Applied Nutrition has an Internet site sponsored by the Food and Drug Administration and the Department of Health and Human Services: http://vm.cfsan.fda.gov/

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Center for Nutrition Policy and Promotion sponsored by the United States Department of Agriculture: http://www.usda.gov/cnpp/

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Food and Nutrition Information Center, National Agricultural Library sponsored by the United States Department of Agriculture: http://www.nal.usda.gov/fnic/

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Food and Nutrition Service sponsored by the United States Department of Agriculture: http://www.fns.usda.gov/fns/

Additional Web Resources A number of additional Web sites offer encyclopedic information covering food and nutrition. The following is a representative sample: •

AOL: http://search.aol.com/cat.adp?id=174&layer=&from=subcats

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Family Village: http://www.familyvillage.wisc.edu/med_nutrition.html

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Google: http://directory.google.com/Top/Health/Nutrition/

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Healthnotes: http://www.healthnotes.com/

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Open Directory Project: http://dmoz.org/Health/Nutrition/

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Yahoo.com: http://dir.yahoo.com/Health/Nutrition/

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WebMD®Health: http://my.webmd.com/nutrition

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WholeHealthMD.com: http://www.wholehealthmd.com/reflib/0,1529,00.html

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CHAPTER 3. ALTERNATIVE ACHONDROPLASIA

MEDICINE

AND

Overview In this chapter, we will begin by introducing you to official information sources on complementary and alternative medicine (CAM) relating to achondroplasia. At the conclusion of this chapter, we will provide additional sources.

National Center for Complementary and Alternative Medicine The National Center for Complementary and Alternative Medicine (NCCAM) of the National Institutes of Health (http://nccam.nih.gov/) has created a link to the National Library of Medicine’s databases to facilitate research for articles that specifically relate to achondroplasia and complementary medicine. To search the database, go to the following Web site: http://www.nlm.nih.gov/nccam/camonpubmed.html. Select “CAM on PubMed.” Enter “achondroplasia” (or synonyms) into the search box. Click “Go.” The following references provide information on particular aspects of complementary and alternative medicine that are related to achondroplasia: •

Achondroplasia. Author(s): Castiglia PT. Source: Journal of Pediatric Health Care : Official Publication of National Association of Pediatric Nurse Associates & Practitioners. 1996 July-August; 10(4): 180-2. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8920380&dopt=Abstract

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Diastrophic dwarfism in early infancy. Author(s): LANGER LO Jr. Source: Am J Roentgenol Radium Ther Nucl Med. 1965 February; 93: 399-404. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=14258290&dopt=Abstract

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Dwarfism in the amish. ii. cartilage-hair hypoplasia. Author(s): McKusick VA, Eldridge R, Hostetler JA, Ruangwit U, Egeland JA. Source: Bull Johns Hopkins Hosp. 1965 May; 116: 285-326. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=14284412&dopt=Abstract

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Little People of America: position statement on genetic discoveries in dwarfism (1996). Author(s): Ricker R. Source: Genetic Resour. 1997; 11(1): 29. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12731507&dopt=Abstract

•

Pediatric neurology. Author(s): Baird HW. Source: Prog Neurol Psychiatry. 1968; 23: 242-52. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4977707&dopt=Abstract

Additional Web Resources A number of additional Web sites offer encyclopedic information covering CAM and related topics. The following is a representative sample: •

Alternative Medicine Foundation, Inc.: http://www.herbmed.org/

•

AOL: http://search.aol.com/cat.adp?id=169&layer=&from=subcats

•

Chinese Medicine: http://www.newcenturynutrition.com/

•

drkoop.com®: http://www.drkoop.com/InteractiveMedicine/IndexC.html

•

Family Village: http://www.familyvillage.wisc.edu/med_altn.htm

•

Google: http://directory.google.com/Top/Health/Alternative/

•

Healthnotes: http://www.healthnotes.com/

•

MedWebPlus: http://medwebplus.com/subject/Alternative_and_Complementary_Medicine

•

Open Directory Project: http://dmoz.org/Health/Alternative/

•

HealthGate: http://www.tnp.com/

•

WebMD®Health: http://my.webmd.com/drugs_and_herbs

•

WholeHealthMD.com: http://www.wholehealthmd.com/reflib/0,1529,00.html

•

Yahoo.com: http://dir.yahoo.com/Health/Alternative_Medicine/

General References A good place to find general background information on CAM is the National Library of Medicine. It has prepared within the MEDLINEplus system an information topic page

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dedicated to complementary and alternative medicine. To access this page, go to the MEDLINEplus site at http://www.nlm.nih.gov/medlineplus/alternativemedicine.html. This Web site provides a general overview of various topics and can lead to a number of general sources.

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CHAPTER 4. DISSERTATIONS ON ACHONDROPLASIA Overview In this chapter, we will give you a bibliography on recent dissertations relating to achondroplasia. We will also provide you with information on how to use the Internet to stay current on dissertations. IMPORTANT NOTE: When following the search strategy described below, you may discover non-medical dissertations that use the generic term “achondroplasia” (or a synonym) in their titles. To accurately reflect the results that you might find while conducting research on achondroplasia, we have not necessarily excluded non-medical dissertations in this bibliography.

Dissertations on Achondroplasia ProQuest Digital Dissertations, the largest archive of academic dissertations available, is located at the following Web address: http://wwwlib.umi.com/dissertations. From this archive, we have compiled the following list covering dissertations devoted to achondroplasia. You will see that the information provided includes the dissertation’s title, its author, and the institution with which the author is associated. The following covers recent dissertations found when using this search procedure: •

Studies in Achondroplasia: A Cephalometric Analysis of the Craniofacial Complex by Cohen, M. Michael, Jr., PhD from University of Minnesota, 1979, 299 pages http://wwwlib.umi.com/dissertations/fullcit/8006597

Keeping Current Ask the medical librarian at your library if it has full and unlimited access to the ProQuest Digital Dissertations database. From the library, you should be able to do more complete searches via http://wwwlib.umi.com/dissertations.

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CHAPTER 5. CLINICAL TRIALS AND ACHONDROPLASIA Overview In this chapter, we will show you how to keep informed of the latest clinical trials concerning achondroplasia.

Recent Trials on Achondroplasia The following is a list of recent trials dedicated to achondroplasia.8 Further information on a trial is available at the Web site indicated. •

Issues Surrounding Prenatal Genetic Testing for Achondroplasia Condition(s): Achondroplasia; Dwarfism Study Status: This study is completed. Sponsor(s): National Human Genome Research Institute (NHGRI) Purpose - Excerpt: Since the gene responsible for achondroplasia was identified in 1994, it has become possible to test for achondroplasia prenatally. Moreover, prenatal genetic testing for achondroplasia is relatively simple and is highly likely to be informative for any couple seeking testing. Four diagnostic laboratories in the U.S. are currently performing prenatal genetic testing for achondroplasia. Before prenatal genetic testing for achondroplasia becomes more widely available, however, it is essential that we learn more about the lives of affected individuals and their families, the implications of offering testing for achondroplasia, and the education and the counseling needs of this community. Personal interviews and stories have been published and discussed at national meetings (Ablon 1984). We conducted a pilot telephone interview survey of 15 individuals with achondroplasia. What is needed now is a large scale quantitative study of the community of little people and their families. To meet this need, we have developed a survey tool to analyze family relationships, quality of life, tendencies toward optimism or pessimism, information-avoiding or information-seeking behaviors, social support, involvement in Little People of America Inc. (LPA), self-esteem, sociodemographics and views on achondroplasia, religiousness, reproductive and family plans, genetic testing, and abortion. The self-administered survey will be

8

These are listed at www.ClinicalTrials.gov.

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completed nationally by a sample of persons with achondroplasia and their family members. Study Type: Observational Contact(s): see Web site below Web Site: http://clinicaltrials.gov/ct/show/NCT00001536

Keeping Current on Clinical Trials The U.S. National Institutes of Health, through the National Library of Medicine, has developed ClinicalTrials.gov to provide current information about clinical research across the broadest number of diseases and conditions. The site was launched in February 2000 and currently contains approximately 5,700 clinical studies in over 59,000 locations worldwide, with most studies being conducted in the United States. ClinicalTrials.gov receives about 2 million hits per month and hosts approximately 5,400 visitors daily. To access this database, simply go to the Web site at http://www.clinicaltrials.gov/ and search by “achondroplasia” (or synonyms). While ClinicalTrials.gov is the most comprehensive listing of NIH-supported clinical trials available, not all trials are in the database. The database is updated regularly, so clinical trials are continually being added. The following is a list of specialty databases affiliated with the National Institutes of Health that offer additional information on trials: •

For clinical studies at the Warren Grant Magnuson Clinical Center located in Bethesda, Maryland, visit their Web site: http://clinicalstudies.info.nih.gov/

•

For clinical studies conducted at the Bayview Campus in Baltimore, Maryland, visit their Web site: http://www.jhbmc.jhu.edu/studies/index.html

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For cancer trials, visit the National Cancer Institute: http://cancertrials.nci.nih.gov/

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For eye-related trials, visit and search the Web page of the National Eye Institute: http://www.nei.nih.gov/neitrials/index.htm

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For heart, lung and blood trials, visit the Web page of the National Heart, Lung and Blood Institute: http://www.nhlbi.nih.gov/studies/index.htm

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For trials on aging, visit and search the Web site of the National Institute on Aging: http://www.grc.nia.nih.gov/studies/index.htm

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For rare diseases, visit and search the Web site sponsored by the Office of Rare Diseases: http://ord.aspensys.com/asp/resources/rsch_trials.asp

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For alcoholism, visit the National Institute on Alcohol Abuse and Alcoholism: http://www.niaaa.nih.gov/intramural/Web_dicbr_hp/particip.htm

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For trials on infectious, immune, and allergic diseases, visit the site of the National Institute of Allergy and Infectious Diseases: http://www.niaid.nih.gov/clintrials/

•

For trials on arthritis, musculoskeletal and skin diseases, visit newly revised site of the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health: http://www.niams.nih.gov/hi/studies/index.htm

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•

For hearing-related trials, visit the National Institute on Deafness and Other Communication Disorders: http://www.nidcd.nih.gov/health/clinical/index.htm

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For trials on diseases of the digestive system and kidneys, and diabetes, visit the National Institute of Diabetes and Digestive and Kidney Diseases: http://www.niddk.nih.gov/patient/patient.htm

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For drug abuse trials, visit and search the Web site sponsored by the National Institute on Drug Abuse: http://www.nida.nih.gov/CTN/Index.htm

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For trials on mental disorders, visit and search the Web site of the National Institute of Mental Health: http://www.nimh.nih.gov/studies/index.cfm

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For trials on neurological disorders and stroke, visit and search the Web site sponsored by the National Institute of Neurological Disorders and Stroke of the NIH: http://www.ninds.nih.gov/funding/funding_opportunities.htm#Clinical_Trials

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CHAPTER 6. PATENTS ON ACHONDROPLASIA Overview Patents can be physical innovations (e.g. chemicals, pharmaceuticals, medical equipment) or processes (e.g. treatments or diagnostic procedures). The United States Patent and Trademark Office defines a patent as a grant of a property right to the inventor, issued by the Patent and Trademark Office.9 Patents, therefore, are intellectual property. For the United States, the term of a new patent is 20 years from the date when the patent application was filed. If the inventor wishes to receive economic benefits, it is likely that the invention will become commercially available within 20 years of the initial filing. It is important to understand, therefore, that an inventor’s patent does not indicate that a product or service is or will be commercially available. The patent implies only that the inventor has “the right to exclude others from making, using, offering for sale, or selling” the invention in the United States. While this relates to U.S. patents, similar rules govern foreign patents. In this chapter, we show you how to locate information on patents and their inventors. If you find a patent that is particularly interesting to you, contact the inventor or the assignee for further information. IMPORTANT NOTE: When following the search strategy described below, you may discover non-medical patents that use the generic term “achondroplasia” (or a synonym) in their titles. To accurately reflect the results that you might find while conducting research on achondroplasia, we have not necessarily excluded non-medical patents in this bibliography.

Patent Applications on Achondroplasia As of December 2000, U.S. patent applications are open to public viewing.10 Applications are patent requests which have yet to be granted. (The process to achieve a patent can take several years.) The following patent applications have been filed since December 2000 relating to achondroplasia:

9Adapted

from the United States Patent and Trademark Office: http://www.uspto.gov/web/offices/pac/doc/general/whatis.htm. 10 This has been a common practice outside the United States prior to December 2000.

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Therapeutic agents for achondroplasia Inventor(s): Nakao, Kazuwa; (Kyoto-shi, JP) Correspondence: Hunton & Williams; Intellectual Property Department; 1900 K Street, N.W.; Suite 1200; Washington; DC; 20006-1109; US Patent Application Number: 20030068313 Date filed: August 14, 2002 Abstract: The present invention aims to provide novel therapeutic agents for achondroplasia caused by mutations in FGFR3.Therapeutic agents for achondroplasia caused by the cartilage growth inhibition resulting from mutations in the gene for fibroblast growth factor receptor 3 (FGFR3), comprising a substance activating guanylyl cyclase B (GC-B) as an active ingredient are disclosed. Excerpt(s): The present invention relates to agents and methods for treating achondroplasia. Achondroplasia is one of the most common congenital diseases responsible for micromelic dwarfism characterized by short limbs relative to trunk. It is diagnosed by X-ray photographs in addition to growth failure in the major axes of the long bones of extremities and typical physical features such as a large frontally projecting cranium and a short nose. The disease is said to occur at an incidence of one to 10,000-25,000 people. This disease is an autosomal dominant hereditary disorder, but 80-90% of cases are found to be sporadic. Current therapies include orthopedic surgeries such as artificial hip joint replacement or leg lengthening and growth hormone therapy. Leg lengthening involves cutting bones at the age of 10 years or after and gradually increasing body height using a special device (leg lengthening device) over several courses of about six months. However, this procedure inflicts a great pain on patients. Growth hormone therapy increases body height by means of periodic growth hormone injections starting from childhood. However, growth ceases when injections are stopped. Neither therapy is curative, and neither are considered ideal from the viewpoint of patients' QOL (American Journal of Medical Genetics 72: 71-76, 1997; European Journal of Endocrinology 138: 275-280, 1998). Consequently, it is desirable to develop a achondroplasia therapy based on a new mechanism. Recent reports show that achondroplastic patients have mutations in fibroblast growth factor receptor 3 (FGFR3) located at chromosome 4p16.3, and two mutations are currently known. Of these mutations, 97% represents G1138A (change of 1138th G to A) and 2.5% represents G1138C (change of 1138th G to C), resulting in a change of the amino acid Gly at the 380position to Arg (G380R) (Nature 371: 252-254, 1994; Cell 78: 335-342, 1994). To examine the relation of this mutation to achondroplasia, G380R FGFR3 (sometimes hereinafter referred to as FGFR3.sup.ach) transgenic mice were bred to provide an animal model for human achondroplasia. The mice showed short limbs and craniofacial hypoplasia (Development. 125: 4977-4988, 1998). Web site: http://appft1.uspto.gov/netahtml/PTO/search-bool.html

Keeping Current In order to stay informed about patents and patent applications dealing with achondroplasia, you can access the U.S. Patent Office archive via the Internet at the following Web address: http://www.uspto.gov/patft/index.html. You will see two broad options: (1) Issued Patent, and (2) Published Applications. To see a list of issued patents,

Patents 73

perform the following steps: Under “Issued Patents,” click “Quick Search.” Then, type “achondroplasia” (or synonyms) into the “Term 1” box. After clicking on the search button, scroll down to see the various patents which have been granted to date on achondroplasia. You can also use this procedure to view pending patent applications concerning achondroplasia. Simply go back to http://www.uspto.gov/patft/index.html. Select “Quick Search” under “Published Applications.” Then proceed with the steps listed above.

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CHAPTER 7. BOOKS ON ACHONDROPLASIA Overview This chapter provides bibliographic book references relating to achondroplasia. In addition to online booksellers such as www.amazon.com and www.bn.com, excellent sources for book titles on achondroplasia include the Combined Health Information Database and the National Library of Medicine. Your local medical library also may have these titles available for loan.

Book Summaries: Federal Agencies The Combined Health Information Database collects various book abstracts from a variety of healthcare institutions and federal agencies. To access these summaries, go directly to the following hyperlink: http://chid.nih.gov/detail/detail.html. You will need to use the “Detailed Search” option. To find book summaries, use the drop boxes at the bottom of the search page where “You may refine your search by.” Select the dates and language you prefer. For the format option, select “Monograph/Book.” Now type “achondroplasia” (or synonyms) into the “For these words:” box. You should check back periodically with this database which is updated every three months. The following is a typical result when searching for books on achondroplasia: •

A-Z Reference Book of Syndromes and Inherited Disorders Source: London, England: Chapman and Hall. 1996. 394 p. Contact: Available from Singular Publishing Group, Inc. 401 West 'A' Street, Suite 325, San Diego, CA 92101-7904. (800) 521-8545 or (619) 238-6777. Fax (800) 774-8398 or (619) 238-6789. E-mail: [email protected]. Website: www.singpub.com. PRICE: $42.95 plus shipping and handling. ISBN: 0412641208. Summary: This book provides a practical reference for both caregivers and those with a syndrome or inherited disorder. The author describes the disorders and problems of both children and adults, and considers the day-to-day management of conditions. The book is written in nontechnical language while still providing enough detail for medical, nursing, and midwifery professionals. The syndromes and disorders are listed alphabetically by name. Those specifically related to deafness, communication, and

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speech and language include achondroplasia, Alport's syndrome, Apert's syndrome, Asperger's syndrome, Batten's disease, Beckwith-Wiedeman syndrome, CHARGE syndrome, Cockayne syndrome, Cornelia de Lange syndrome, Crouzon's syndrome, Down's syndrome, Duchenne muscular dystrophy, Edward's syndrome, Ehlers-Danlos syndrome, Fabry disease, fetal alcohol syndrome, Fragile X syndrome, Gilles de la Tourette syndrome, Goldenhar syndrome, Hunter's syndrome, Hurler's syndrome, Klinefelter's syndrome, LEOPARD syndrome, Moebius syndrome, Morquio's syndrome, neurofibromatosis, Niemann-Pick disease, Noonan's syndrome, osteogenesis imperfecta, Pierre-Robin syndrome, Prader-Willi syndrome, Rett's syndrome, Reye's syndrome, San Filippo syndrome, Smith-Magenis syndrome, Stickler syndrome, Tay-Sachs disease, Treacher Collins syndrome, Turner's syndrome, Usher's syndrome, Waardenburg's syndrome, and William's syndrome. For each syndrome, the author lists alternative names, incidence, causation (etiology), characteristics or symptoms, management implications (treatment options), prognosis, and self-help groups to contact. Most groups listed are in England. The book concludes with three appendices that provide a discussion of genetics, a listing of regional genetics centers (in England), and a glossary of terms. A subject index is also included. (AA-M). •

Genetic Disorders and Birth Defects: A Compendium of AAP Guidelines and Resources for the Primary Care Practitioner Source: Elk Grove Village, IL: American Academy of Pediatrics (AAP). 1997. 130 p. Contact: Available from American Academy of Pediatrics (AAP). 141 Northwest Point Boulevard, Elk Grove Village, IL 60007-1098. (800) 433-9016 (members) or (888) 227-1773 (nonmembers). Fax (847) 434-8000. Website: www.aap.org. PRICE: $24.95 each (members); $29.95 each (nonmembers); plus shipping and handling. Order Number BMA0097. Summary: This volume provides a compendium of the American Academy of Pediatrics (AAP) guidelines and resources for health care providers who are working with patients who have genetic disorders and birth defects. The compendium serves as a diagnostic and management resource guide for pediatricians and primary care physicians. Although some of the disorders covered are relatively uncommon, it is likely that most pediatricians will encounter and care for a few such patients in their practice panel. The authors emphasize that early intervention services, multidisciplinary care, and developmental assessment and management form a major part of continuing care for many children with genetic conditions. The AAP Policy Statements are provided on folic acid for the prevention of neural tube defects, issues in newborn screening, maternal phenylketonuria, maternal serum alpha-fetoprotein screening, newborn screening for congenital hypothyroidism, newborn screening fact sheets, and prenatal genetic diagnosis for pediatricians. In addition, policy statements are provided for the health supervision of children born with the following conditions: achondroplasia, Down syndrome, fragile X syndrome, Marfan syndrome, neurofibromatosis, sickle cell disease, and Turner syndrome. Each Policy Statement includes references. The compendium includes extensive appendices, covering topics including fetal alcohol syndrome, general principles of care for children and adolescents with genetic and other chronic health conditions, hospital stays, medical homes, preventive pediatric health care, and transition of care provided for adolescents with special health care needs. The compendium also lists the references where the policy statements were first published, the contact information for national and regional genetic organizations, and the members of the AAP Section on Genetics and Birth Defects.

Books

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Book Summaries: Online Booksellers Commercial Internet-based booksellers, such as Amazon.com and Barnes&Noble.com, offer summaries which have been supplied by each title’s publisher. Some summaries also include customer reviews. Your local bookseller may have access to in-house and commercial databases that index all published books (e.g. Books in Print®). IMPORTANT NOTE: Online booksellers typically produce search results for medical and non-medical books. When searching for “achondroplasia” at online booksellers’ Web sites, you may discover non-medical books that use the generic term “achondroplasia” (or a synonym) in their titles. The following is indicative of the results you might find when searching for “achondroplasia” (sorted alphabetically by title; follow the hyperlink to view more details at Amazon.com): •

Human Achondroplasia: A Multidisciplinary Approach (Basic Life Sciences, Vol 48) by Benedetto Nicolettii, et al; ISBN: 0306430061; http://www.amazon.com/exec/obidos/ASIN/0306430061/icongroupinterna

The National Library of Medicine Book Index The National Library of Medicine at the National Institutes of Health has a massive database of books published on healthcare and biomedicine. Go to the following Internet site, http://locatorplus.gov/, and then select “Search LOCATORplus.” Once you are in the search area, simply type “achondroplasia” (or synonyms) into the search box, and select “books only.” From there, results can be sorted by publication date, author, or relevance. The following was recently catalogued by the National Library of Medicine:11 •

Achondroplasia, its nature and its cause; a study of the stunting of growth in embryonic cell-groups caused by amnion-pressure in the different stages of the development of the skeleton (anencephaly, achondroplasia, kakomelia). Author: Jansen, Murk; Year: 1912

Chapters on Achondroplasia In order to find chapters that specifically relate to achondroplasia, an excellent source of abstracts is the Combined Health Information Database. You will need to limit your search to book chapters and achondroplasia using the “Detailed Search” option. Go to the following hyperlink: http://chid.nih.gov/detail/detail.html. To find book chapters, use the drop boxes at the bottom of the search page where “You may refine your search by.” Select the dates and language you prefer, and the format option “Book Chapter.” Type “achondroplasia” (or synonyms) into the “For these words:” box. The following is a typical result when searching for book chapters on achondroplasia:

11

In addition to LOCATORPlus, in collaboration with authors and publishers, the National Center for Biotechnology Information (NCBI) is currently adapting biomedical books for the Web. The books may be accessed in two ways: (1) by searching directly using any search term or phrase (in the same way as the bibliographic database PubMed), or (2) by following the links to PubMed abstracts. Each PubMed abstract has a "Books" button that displays a facsimile of the abstract in which some phrases are hypertext links. These phrases are also found in the books available at NCBI. Click on hyperlinked results in the list of books in which the phrase is found. Currently, the majority of the links are between the books and PubMed. In the future, more links will be created between the books and other types of information, such as gene and protein sequences and macromolecular structures. See http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Books.

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Achondroplasia: Achondroplastic Dwarfism, Short-Limbed Dwarfism Source: in Plumridge, D.; et al., eds. Student with a Genetic Disorder: Educational Implications for Special Education Teachers and for Physical Therapists, Occupational Therapists, and Speech Pathologists. Springfield, IL: Charles C Thomas Publisher. 1993. p. 53-59. Contact: Available from Charles C Thomas Publisher. 2600 South First Street, Springfield, IL 62794-9265. (212) 789-8980. Fax (217) 789-9130. PRICE: $75.95 plus shipping and handling (cloth); $39.95 plus shipping and handling (paper). ISBN: 0398058393. Summary: Achondroplasia is the most common of the many forms of short-limbed dwarfism. This chapter on achondroplasia is from a text for special education teachers, physical therapists, occupational therapists, and speech pathologists on the educational implications of genetic disorders. Topics covered include the characteristic features of the disorder, orthopedic and skeletal problems, neurological problems, cardiopulmonary complications, the genetics of the disorder, the cognitive and behavior profiles, the educational implications, physical therapy, occupational therapy, hearing and speech considerations, psychosocial issues, and prognosis. 1 figure. 9 references.

•

Achondroplasia Source: in Gilbert, P. A-Z Reference Book of Syndromes and Inherited Disorders. 2nd ed. London, England: Chapman and Hall. p. 9-13. Contact: Available from Singular Publishing Group, Inc. 401 West 'A' Street, Suite 325, San Diego, CA 92101-7904. (800) 521-8545 or (619) 238-6777. Fax (800) 774-8398 or (619) 238-6789. E-mail: [email protected]. Website: www.singpub.com. PRICE: $42.95 plus shipping and handling. ISBN: 0412641208. Summary: This chapter on achondroplasia is from a practical reference book that describes inherited disorders and syndromes in both children and adults. Achondroplasia is a genetic disorder that results in short stature, with short arms and legs, while the trunk and head are of normal size. The disorder also predisposes children to frequent middle ear infections that can eventually result in conductive deafness. Topics include alternative names for the condition, incidence, history, causation, characteristics, management implications, prognosis, and self-help groups. The author also addresses the emotional effects of achondroplasia on both the affected child and the family. The chapter concludes with a list of support groups and organizations that can be found in England.

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APPENDICES

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APPENDIX A. PHYSICIAN RESOURCES Overview In this chapter, we focus on databases and Internet-based guidelines and information resources created or written for a professional audience.

NIH Guidelines Commonly referred to as “clinical” or “professional” guidelines, the National Institutes of Health publish physician guidelines for the most common diseases. Publications are available at the following by relevant Institute12: •

Office of the Director (OD); guidelines consolidated across agencies available at http://www.nih.gov/health/consumer/conkey.htm

•

National Institute of General Medical Sciences (NIGMS); fact sheets available at http://www.nigms.nih.gov/news/facts/

•

National Library of Medicine (NLM); extensive encyclopedia (A.D.A.M., Inc.) with guidelines: http://www.nlm.nih.gov/medlineplus/healthtopics.html

•

National Cancer Institute (NCI); guidelines available at http://www.cancer.gov/cancerinfo/list.aspx?viewid=5f35036e-5497-4d86-8c2c714a9f7c8d25

•

National Eye Institute (NEI); guidelines available at http://www.nei.nih.gov/order/index.htm

•

National Heart, Lung, and Blood Institute (NHLBI); guidelines available at http://www.nhlbi.nih.gov/guidelines/index.htm

•

National Human Genome Research Institute (NHGRI); research available at http://www.genome.gov/page.cfm?pageID=10000375

•

National Institute on Aging (NIA); guidelines available at http://www.nia.nih.gov/health/

12

These publications are typically written by one or more of the various NIH Institutes.

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National Institute on Alcohol Abuse and Alcoholism (NIAAA); guidelines available at http://www.niaaa.nih.gov/publications/publications.htm

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National Institute of Allergy and Infectious Diseases (NIAID); guidelines available at http://www.niaid.nih.gov/publications/

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National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS); fact sheets and guidelines available at http://www.niams.nih.gov/hi/index.htm

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National Institute of Child Health and Human Development (NICHD); guidelines available at http://www.nichd.nih.gov/publications/pubskey.cfm

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National Institute on Deafness and Other Communication Disorders (NIDCD); fact sheets and guidelines at http://www.nidcd.nih.gov/health/

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National Institute of Dental and Craniofacial Research (NIDCR); guidelines available at http://www.nidr.nih.gov/health/

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National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); guidelines available at http://www.niddk.nih.gov/health/health.htm

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National Institute on Drug Abuse (NIDA); guidelines available at http://www.nida.nih.gov/DrugAbuse.html

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National Institute of Environmental Health Sciences (NIEHS); environmental health information available at http://www.niehs.nih.gov/external/facts.htm

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National Institute of Mental Health (NIMH); guidelines available at http://www.nimh.nih.gov/practitioners/index.cfm

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National Institute of Neurological Disorders and Stroke (NINDS); neurological disorder information pages available at http://www.ninds.nih.gov/health_and_medical/disorder_index.htm

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National Institute of Nursing Research (NINR); publications on selected illnesses at http://www.nih.gov/ninr/news-info/publications.html

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National Institute of Biomedical Imaging and Bioengineering; general information at http://grants.nih.gov/grants/becon/becon_info.htm

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Center for Information Technology (CIT); referrals to other agencies based on keyword searches available at http://kb.nih.gov/www_query_main.asp

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National Center for Complementary and Alternative Medicine (NCCAM); health information available at http://nccam.nih.gov/health/

•

National Center for Research Resources (NCRR); various information directories available at http://www.ncrr.nih.gov/publications.asp

•

Office of Rare Diseases; various fact sheets available at http://rarediseases.info.nih.gov/html/resources/rep_pubs.html

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Centers for Disease Control and Prevention; various fact sheets on infectious diseases available at http://www.cdc.gov/publications.htm

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NIH Databases In addition to the various Institutes of Health that publish professional guidelines, the NIH has designed a number of databases for professionals.13 Physician-oriented resources provide a wide variety of information related to the biomedical and health sciences, both past and present. The format of these resources varies. Searchable databases, bibliographic citations, full-text articles (when available), archival collections, and images are all available. The following are referenced by the National Library of Medicine:14 •

Bioethics: Access to published literature on the ethical, legal, and public policy issues surrounding healthcare and biomedical research. This information is provided in conjunction with the Kennedy Institute of Ethics located at Georgetown University, Washington, D.C.: http://www.nlm.nih.gov/databases/databases_bioethics.html

•

HIV/AIDS Resources: Describes various links and databases dedicated to HIV/AIDS research: http://www.nlm.nih.gov/pubs/factsheets/aidsinfs.html

•

NLM Online Exhibitions: Describes “Exhibitions in the History of Medicine”: http://www.nlm.nih.gov/exhibition/exhibition.html. Additional resources for historical scholarship in medicine: http://www.nlm.nih.gov/hmd/hmd.html

•

Biotechnology Information: Access to public databases. The National Center for Biotechnology Information conducts research in computational biology, develops software tools for analyzing genome data, and disseminates biomedical information for the better understanding of molecular processes affecting human health and disease: http://www.ncbi.nlm.nih.gov/

•

Population Information: The National Library of Medicine provides access to worldwide coverage of population, family planning, and related health issues, including family planning technology and programs, fertility, and population law and policy: http://www.nlm.nih.gov/databases/databases_population.html

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Cancer Information: Access to cancer-oriented databases: http://www.nlm.nih.gov/databases/databases_cancer.html

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Profiles in Science: Offering the archival collections of prominent twentieth-century biomedical scientists to the public through modern digital technology: http://www.profiles.nlm.nih.gov/

•

Chemical Information: Provides links to various chemical databases and references: http://sis.nlm.nih.gov/Chem/ChemMain.html

•

Clinical Alerts: Reports the release of findings from the NIH-funded clinical trials where such release could significantly affect morbidity and mortality: http://www.nlm.nih.gov/databases/alerts/clinical_alerts.html

•

Space Life Sciences: Provides links and information to space-based research (including NASA): http://www.nlm.nih.gov/databases/databases_space.html

•

MEDLINE: Bibliographic database covering the fields of medicine, nursing, dentistry, veterinary medicine, the healthcare system, and the pre-clinical sciences: http://www.nlm.nih.gov/databases/databases_medline.html

13

Remember, for the general public, the National Library of Medicine recommends the databases referenced in MEDLINEplus (http://medlineplus.gov/ or http://www.nlm.nih.gov/medlineplus/databases.html). 14 See http://www.nlm.nih.gov/databases/databases.html.

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•

Toxicology and Environmental Health Information (TOXNET): Databases covering toxicology and environmental health: http://sis.nlm.nih.gov/Tox/ToxMain.html

•

Visible Human Interface: Anatomically detailed, three-dimensional representations of normal male and female human bodies: http://www.nlm.nih.gov/research/visible/visible_human.html

The NLM Gateway15 The NLM (National Library of Medicine) Gateway is a Web-based system that lets users search simultaneously in multiple retrieval systems at the U.S. National Library of Medicine (NLM). It allows users of NLM services to initiate searches from one Web interface, providing one-stop searching for many of NLM’s information resources or databases.16 To use the NLM Gateway, simply go to the search site at http://gateway.nlm.nih.gov/gw/Cmd. Type “achondroplasia” (or synonyms) into the search box and click “Search.” The results will be presented in a tabular form, indicating the number of references in each database category. Results Summary Category Journal Articles Books / Periodicals / Audio Visual Consumer Health Meeting Abstracts Other Collections Total

Items Found 1530 10 22 1 58 1621

HSTAT17 HSTAT is a free, Web-based resource that provides access to full-text documents used in healthcare decision-making.18 These documents include clinical practice guidelines, quickreference guides for clinicians, consumer health brochures, evidence reports and technology assessments from the Agency for Healthcare Research and Quality (AHRQ), as well as AHRQ’s Put Prevention Into Practice.19 Simply search by “achondroplasia” (or synonyms) at the following Web site: http://text.nlm.nih.gov.

15

Adapted from NLM: http://gateway.nlm.nih.gov/gw/Cmd?Overview.x.

16

The NLM Gateway is currently being developed by the Lister Hill National Center for Biomedical Communications (LHNCBC) at the National Library of Medicine (NLM) of the National Institutes of Health (NIH). 17 Adapted from HSTAT: http://www.nlm.nih.gov/pubs/factsheets/hstat.html. 18 19

The HSTAT URL is http://hstat.nlm.nih.gov/.

Other important documents in HSTAT include: the National Institutes of Health (NIH) Consensus Conference Reports and Technology Assessment Reports; the HIV/AIDS Treatment Information Service (ATIS) resource documents; the Substance Abuse and Mental Health Services Administration's Center for Substance Abuse Treatment (SAMHSA/CSAT) Treatment Improvement Protocols (TIP) and Center for Substance Abuse Prevention (SAMHSA/CSAP) Prevention Enhancement Protocols System (PEPS); the Public Health Service (PHS) Preventive Services Task Force's Guide to Clinical Preventive Services; the independent, nonfederal Task Force on Community Services’ Guide to Community Preventive Services; and the Health Technology Advisory Committee (HTAC) of the Minnesota Health Care Commission (MHCC) health technology evaluations.

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Coffee Break: Tutorials for Biologists20 Coffee Break is a general healthcare site that takes a scientific view of the news and covers recent breakthroughs in biology that may one day assist physicians in developing treatments. Here you will find a collection of short reports on recent biological discoveries. Each report incorporates interactive tutorials that demonstrate how bioinformatics tools are used as a part of the research process. Currently, all Coffee Breaks are written by NCBI staff.21 Each report is about 400 words and is usually based on a discovery reported in one or more articles from recently published, peer-reviewed literature.22 This site has new articles every few weeks, so it can be considered an online magazine of sorts. It is intended for general background information. You can access the Coffee Break Web site at the following hyperlink: http://www.ncbi.nlm.nih.gov/Coffeebreak/.

Other Commercial Databases In addition to resources maintained by official agencies, other databases exist that are commercial ventures addressing medical professionals. Here are some examples that may interest you: •

CliniWeb International: Index and table of contents to selected clinical information on the Internet; see http://www.ohsu.edu/cliniweb/.

•

Medical World Search: Searches full text from thousands of selected medical sites on the Internet; see http://www.mwsearch.com/.

The Genome Project and Achondroplasia In the following section, we will discuss databases and references which relate to the Genome Project and achondroplasia. Online Mendelian Inheritance in Man (OMIM) The Online Mendelian Inheritance in Man (OMIM) database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere. OMIM was developed for the World Wide Web by the National Center for Biotechnology Information (NCBI).23 The database contains textual information, pictures, and reference information. It also contains copious links to NCBI’s Entrez database of MEDLINE articles and sequence information. 20 Adapted 21

from http://www.ncbi.nlm.nih.gov/Coffeebreak/Archive/FAQ.html.

The figure that accompanies each article is frequently supplied by an expert external to NCBI, in which case the source of the figure is cited. The result is an interactive tutorial that tells a biological story. 22 After a brief introduction that sets the work described into a broader context, the report focuses on how a molecular understanding can provide explanations of observed biology and lead to therapies for diseases. Each vignette is accompanied by a figure and hypertext links that lead to a series of pages that interactively show how NCBI tools and resources are used in the research process. 23 Adapted from http://www.ncbi.nlm.nih.gov/. Established in 1988 as a national resource for molecular biology information, NCBI creates public databases, conducts research in computational biology, develops software tools for analyzing genome data, and disseminates biomedical information--all for the better understanding of molecular processes affecting human health and disease.

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To search the database, go to http://www.ncbi.nlm.nih.gov/Omim/searchomim.html. Type “achondroplasia” (or synonyms) into the search box, and click “Submit Search.” If too many results appear, you can narrow the search by adding the word “clinical.” Each report will have additional links to related research and databases. In particular, the option “Database Links” will search across technical databases that offer an abundance of information. The following is an example of the results you can obtain from the OMIM for achondroplasia: •

Achondroplasia Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?100800

•

Achondroplasia, So-called, and Swiss-type Agammaglobulinemia Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?200900

•

Pseudoachondroplastic Dysplasia Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?177170 Genes and Disease (NCBI - Map)

The Genes and Disease database is produced by the National Center for Biotechnology Information of the National Library of Medicine at the National Institutes of Health. This Web site categorizes each disorder by system of the body. Go to http://www.ncbi.nlm.nih.gov/disease/, and browse the system pages to have a full view of important conditions linked to human genes. Since this site is regularly updated, you may wish to revisit it from time to time. The following systems and associated disorders are addressed: •

Cancer: Uncontrolled cell division. Examples: Breast and ovarian cancer, Burkitt lymphoma, chronic myeloid leukemia, colon cancer, lung cancer, malignant melanoma, multiple endocrine neoplasia, neurofibromatosis, p53 tumor suppressor, pancreatic cancer, prostate cancer, Ras oncogene, RB: retinoblastoma, von Hippel-Lindau syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Cancer.html

•

Immune System: Fights invaders. Examples: Asthma, autoimmune polyglandular syndrome, Crohn’s disease, DiGeorge syndrome, familial Mediterranean fever, immunodeficiency with Hyper-IgM, severe combined immunodeficiency. Web site: http://www.ncbi.nlm.nih.gov/disease/Immune.html

•

Metabolism: Food and energy. Examples: Adreno-leukodystrophy, atherosclerosis, Best disease, Gaucher disease, glucose galactose malabsorption, gyrate atrophy, juvenile-onset diabetes, obesity, paroxysmal nocturnal hemoglobinuria, phenylketonuria, Refsum disease, Tangier disease, Tay-Sachs disease. Web site: http://www.ncbi.nlm.nih.gov/disease/Metabolism.html

•

Muscle and Bone: Movement and growth. Examples: Duchenne muscular dystrophy, Ellis-van Creveld syndrome, Marfan syndrome, myotonic dystrophy, spinal muscular atrophy. Web site: http://www.ncbi.nlm.nih.gov/disease/Muscle.html

•

Nervous System: Mind and body. Examples: Alzheimer disease, amyotrophic lateral sclerosis, Angelman syndrome, Charcot-Marie-Tooth disease, epilepsy, essential tremor, fragile X syndrome,

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Friedreich’s ataxia, Huntington disease, Niemann-Pick disease, Parkinson disease, Prader-Willi syndrome, Rett syndrome, spinocerebellar atrophy, Williams syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Brain.html •

Signals: Cellular messages. Examples: Ataxia telangiectasia, Cockayne syndrome, glaucoma, male-patterned baldness, SRY: sex determination, tuberous sclerosis, Waardenburg syndrome, Werner syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Signals.html

•

Transporters: Pumps and channels. Examples: Cystic fibrosis, deafness, diastrophic dysplasia, Hemophilia A, long-QT syndrome, Menkes syndrome, Pendred syndrome, polycystic kidney disease, sickle cell anemia, Wilson’s disease, Zellweger syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Transporters.html Entrez

Entrez is a search and retrieval system that integrates several linked databases at the National Center for Biotechnology Information (NCBI). These databases include nucleotide sequences, protein sequences, macromolecular structures, whole genomes, and MEDLINE through PubMed. Entrez provides access to the following databases: •

3D Domains: Domains from Entrez Structure, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=geo

•

Books: Online books, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=books

•

Genome: Complete genome assemblies, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Genome

•

NCBI’s Protein Sequence Information Survey Results: Web site: http://www.ncbi.nlm.nih.gov/About/proteinsurvey/

•

Nucleotide Sequence Database (Genbank): Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Nucleotide

•

OMIM: Online Mendelian Inheritance in Man, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM

•

PopSet: Population study data sets, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Popset

•

ProbeSet: Gene Expression Omnibus (GEO), Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=geo

•

Protein Sequence Database: Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Protein

•

PubMed: Biomedical literature (PubMed), Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed

•

Structure: Three-dimensional macromolecular structures, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Structure

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Taxonomy: Organisms in GenBank, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Taxonomy

To access the Entrez system at the National Center for Biotechnology Information, go to http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=genome, and then select the database that you would like to search. The databases available are listed in the drop box next to “Search.” Enter “achondroplasia” (or synonyms) into the search box and click “Go.” Jablonski’s Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Database24 This online resource has been developed to facilitate the identification and differentiation of syndromic entities. Special attention is given to the type of information that is usually limited or completely omitted in existing reference sources due to space limitations of the printed form. At http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_a.html, you can search across syndromes using an alphabetical index. Search by keywords at http://www.nlm.nih.gov/mesh/jablonski/syndrome_db.html. The Genome Database25 Established at Johns Hopkins University in Baltimore, Maryland in 1990, the Genome Database (GDB) is the official central repository for genomic mapping data resulting from the Human Genome Initiative. In the spring of 1999, the Bioinformatics Supercomputing Centre (BiSC) at the Hospital for Sick Children in Toronto, Ontario assumed the management of GDB. The Human Genome Initiative is a worldwide research effort focusing on structural analysis of human DNA to determine the location and sequence of the estimated 100,000 human genes. In support of this project, GDB stores and curates data generated by researchers worldwide who are engaged in the mapping effort of the Human Genome Project (HGP). GDB’s mission is to provide scientists with an encyclopedia of the human genome which is continually revised and updated to reflect the current state of scientific knowledge. Although GDB has historically focused on gene mapping, its focus will broaden as the Genome Project moves from mapping to sequence, and finally, to functional analysis. To access the GDB, simply go to the following hyperlink: http://www.gdb.org/. Search “All Biological Data” by “Keyword.” Type “achondroplasia” (or synonyms) into the search box, and review the results. If more than one word is used in the search box, then separate each one with the word “and” or “or” (using “or” might be useful when using synonyms).

24

Adapted from the National Library of Medicine: http://www.nlm.nih.gov/mesh/jablonski/about_syndrome.html. 25 Adapted from the Genome Database: http://gdbwww.gdb.org/gdb/aboutGDB.html - mission.

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APPENDIX B. PATIENT RESOURCES Overview Official agencies, as well as federally funded institutions supported by national grants, frequently publish a variety of guidelines written with the patient in mind. These are typically called “Fact Sheets” or “Guidelines.” They can take the form of a brochure, information kit, pamphlet, or flyer. Often they are only a few pages in length. Since new guidelines on achondroplasia can appear at any moment and be published by a number of sources, the best approach to finding guidelines is to systematically scan the Internet-based services that post them.

Patient Guideline Sources The remainder of this chapter directs you to sources which either publish or can help you find additional guidelines on topics related to achondroplasia. Due to space limitations, these sources are listed in a concise manner. Do not hesitate to consult the following sources by either using the Internet hyperlink provided, or, in cases where the contact information is provided, contacting the publisher or author directly. The National Institutes of Health The NIH gateway to patients is located at http://health.nih.gov/. From this site, you can search across various sources and institutes, a number of which are summarized below. Topic Pages: MEDLINEplus The National Library of Medicine has created a vast and patient-oriented healthcare information portal called MEDLINEplus. Within this Internet-based system are “health topic pages” which list links to available materials relevant to achondroplasia. To access this system, log on to http://www.nlm.nih.gov/medlineplus/healthtopics.html. From there you can either search using the alphabetical index or browse by broad topic areas. Recently, MEDLINEplus listed the following when searched for “achondroplasia”:

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Other guides Bipolar Disorder http://www.nlm.nih.gov/medlineplus/bipolardisorder.html Birth Defects http://www.nlm.nih.gov/medlineplus/birthdefects.html Bone Diseases http://www.nlm.nih.gov/medlineplus/bonediseases.html Cartilage Disorders http://www.nlm.nih.gov/medlineplus/cartilagedisorders.html Dwarfism http://www.nlm.nih.gov/medlineplus/dwarfism.html Genetic Disorders http://www.nlm.nih.gov/medlineplus/geneticdisorders.html Genetic Testing/Counseling http://www.nlm.nih.gov/medlineplus/genetictestingcounseling.html Hearing Disorders and Deafness http://www.nlm.nih.gov/medlineplus/hearingdisordersanddeafness.html Pets and Pet Health http://www.nlm.nih.gov/medlineplus/petsandpethealth.html

Within the health topic page dedicated to achondroplasia, the following was listed: •

General/Overviews Dwarfism Resources: Frequently Asked Questions Source: Little People of America http://www.lpaonline.org/resources_faq.html Dwarfism Types and Definitions Source: Little People of America http://www.lpaonline.org/resources_dwarftypes.html

•

Specific Conditions/Aspects Achondroplasia Source: March of Dimes Birth Defects Foundation http://www.marchofdimes.com/professionals/681_1204.asp Extended Limb-Lengthening: Introduction Source: Little People of America http://www.lpaonline.org/library_ellintro.html Genes and Disease: Cockayne Syndrome Source: National Center for Biotechnology Information http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View.ShowSection&rid=gnd. section.159

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Genes and Disease: Diastrophic Dysplasia Source: National Center for Biotechnology Information http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View.ShowSection&rid=gnd. section.245 Genes and Disease: Ellis-Van Creveld Syndrome Source: National Center for Biotechnology Information http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View.ShowSection&rid=gnd. section.162 •

Children Dwarfism Source: Nemours Foundation http://kidshealth.org/parent/medical/bones/dwarfism.html

•

Organizations Little People of America Online Source: Little People of America http://www.lpaonline.org/ National Institute of Child Health and Human Development http://www.nichd.nih.gov/

You may also choose to use the search utility provided by MEDLINEplus at the following Web address: http://www.nlm.nih.gov/medlineplus/. Simply type a keyword into the search box and click “Search.” This utility is similar to the NIH search utility, with the exception that it only includes materials that are linked within the MEDLINEplus system (mostly patient-oriented information). It also has the disadvantage of generating unstructured results. We recommend, therefore, that you use this method only if you have a very targeted search. Healthfinder™ Healthfinder™ is sponsored by the U.S. Department of Health and Human Services and offers links to hundreds of other sites that contain healthcare information. This Web site is located at http://www.healthfinder.gov. Again, keyword searches can be used to find guidelines. The following was recently found in this database: •

Achondroplasia Source: March of Dimes Birth Defects Foundation http://www.healthfinder.gov/scripts/recordpass.asp?RecordType=0&RecordID=2578 The NIH Search Utility

The NIH search utility allows you to search for documents on over 100 selected Web sites that comprise the NIH-WEB-SPACE. Each of these servers is “crawled” and indexed on an ongoing basis. Your search will produce a list of various documents, all of which will relate in some way to achondroplasia. The drawbacks of this approach are that the information is not organized by theme and that the references are often a mix of information for

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professionals and patients. Nevertheless, a large number of the listed Web sites provide useful background information. We can only recommend this route, therefore, for relatively rare or specific disorders, or when using highly targeted searches. To use the NIH search utility, visit the following Web page: http://search.nih.gov/index.html. NORD (The National Organization of Rare Disorders, Inc.) NORD provides an invaluable service to the public by publishing short yet comprehensive guidelines on over 1,000 diseases. NORD primarily focuses on rare diseases that might not be covered by the previously listed sources. NORD’s Web address is http://www.rarediseases.org/. A complete guide on achondroplasia can be purchased from NORD for a nominal fee. PEDBASE Similar to NORD, PEDBASE covers relatively rare disorders, limited mainly to pediatric conditions. PEDBASE was designed by Dr. Alan Gandy. To access the database, which is more oriented to researchers than patients, you can view the current list of health topics covered at the following Web site: http://www.icondata.com/health/pedbase/pedlynx.htm. Additional Web Sources A number of Web sites are available to the public that often link to government sites. These can also point you in the direction of essential information. The following is a representative sample: •

AOL: http://search.aol.com/cat.adp?id=168&layer=&from=subcats

•

Family Village: http://www.familyvillage.wisc.edu/specific.htm

•

Google: http://directory.google.com/Top/Health/Conditions_and_Diseases/

•

Med Help International: http://www.medhelp.org/HealthTopics/A.html

•

Open Directory Project: http://dmoz.org/Health/Conditions_and_Diseases/

•

Yahoo.com: http://dir.yahoo.com/Health/Diseases_and_Conditions/

•

WebMD®Health: http://my.webmd.com/health_topics

Finding Associations There are several Internet directories that provide lists of medical associations with information on or resources relating to achondroplasia. By consulting all of associations listed in this chapter, you will have nearly exhausted all sources for patient associations concerned with achondroplasia.

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The National Health Information Center (NHIC) The National Health Information Center (NHIC) offers a free referral service to help people find organizations that provide information about achondroplasia. For more information, see the NHIC’s Web site at http://www.health.gov/NHIC/ or contact an information specialist by calling 1-800-336-4797. Directory of Health Organizations The Directory of Health Organizations, provided by the National Library of Medicine Specialized Information Services, is a comprehensive source of information on associations. The Directory of Health Organizations database can be accessed via the Internet at http://www.sis.nlm.nih.gov/Dir/DirMain.html. It is composed of two parts: DIRLINE and Health Hotlines. The DIRLINE database comprises some 10,000 records of organizations, research centers, and government institutes and associations that primarily focus on health and biomedicine. To access DIRLINE directly, go to the following Web site: http://dirline.nlm.nih.gov/. Simply type in “achondroplasia” (or a synonym), and you will receive information on all relevant organizations listed in the database. Health Hotlines directs you to toll-free numbers to over 300 organizations. You can access this database directly at http://www.sis.nlm.nih.gov/hotlines/. On this page, you are given the option to search by keyword or by browsing the subject list. When you have received your search results, click on the name of the organization for its description and contact information. The Combined Health Information Database Another comprehensive source of information on healthcare associations is the Combined Health Information Database. Using the “Detailed Search” option, you will need to limit your search to “Organizations” and “achondroplasia”. Type the following hyperlink into your Web browser: http://chid.nih.gov/detail/detail.html. To find associations, use the drop boxes at the bottom of the search page where “You may refine your search by.” For publication date, select “All Years.” Then, select your preferred language and the format option “Organization Resource Sheet.” Type “achondroplasia” (or synonyms) into the “For these words:” box. You should check back periodically with this database since it is updated every three months. The National Organization for Rare Disorders, Inc. The National Organization for Rare Disorders, Inc. has prepared a Web site that provides, at no charge, lists of associations organized by health topic. You can access this database at the following Web site: http://www.rarediseases.org/search/orgsearch.html. Type “achondroplasia” (or a synonym) into the search box, and click “Submit Query.”

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APPENDIX C. FINDING MEDICAL LIBRARIES Overview In this Appendix, we show you how to quickly find a medical library in your area.

Preparation Your local public library and medical libraries have interlibrary loan programs with the National Library of Medicine (NLM), one of the largest medical collections in the world. According to the NLM, most of the literature in the general and historical collections of the National Library of Medicine is available on interlibrary loan to any library. If you would like to access NLM medical literature, then visit a library in your area that can request the publications for you.26

Finding a Local Medical Library The quickest method to locate medical libraries is to use the Internet-based directory published by the National Network of Libraries of Medicine (NN/LM). This network includes 4626 members and affiliates that provide many services to librarians, health professionals, and the public. To find a library in your area, simply visit http://nnlm.gov/members/adv.html or call 1-800-338-7657.

Medical Libraries in the U.S. and Canada In addition to the NN/LM, the National Library of Medicine (NLM) lists a number of libraries with reference facilities that are open to the public. The following is the NLM’s list and includes hyperlinks to each library’s Web site. These Web pages can provide information on hours of operation and other restrictions. The list below is a small sample of

26

Adapted from the NLM: http://www.nlm.nih.gov/psd/cas/interlibrary.html.

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libraries recommended by the National Library of Medicine (sorted alphabetically by name of the U.S. state or Canadian province where the library is located)27: •

Alabama: Health InfoNet of Jefferson County (Jefferson County Library Cooperative, Lister Hill Library of the Health Sciences), http://www.uab.edu/infonet/

•

Alabama: Richard M. Scrushy Library (American Sports Medicine Institute)

•

Arizona: Samaritan Regional Medical Center: The Learning Center (Samaritan Health System, Phoenix, Arizona), http://www.samaritan.edu/library/bannerlibs.htm

•

California: Kris Kelly Health Information Center (St. Joseph Health System, Humboldt), http://www.humboldt1.com/~kkhic/index.html

•

California: Community Health Library of Los Gatos, http://www.healthlib.org/orgresources.html

•

California: Consumer Health Program and Services (CHIPS) (County of Los Angeles Public Library, Los Angeles County Harbor-UCLA Medical Center Library) - Carson, CA, http://www.colapublib.org/services/chips.html

•

California: Gateway Health Library (Sutter Gould Medical Foundation)

•

California: Health Library (Stanford University Medical Center), http://wwwmed.stanford.edu/healthlibrary/

•

California: Patient Education Resource Center - Health Information and Resources (University of California, San Francisco), http://sfghdean.ucsf.edu/barnett/PERC/default.asp

•

California: Redwood Health Library (Petaluma Health Care District), http://www.phcd.org/rdwdlib.html

•

California: Los Gatos PlaneTree Health Library, http://planetreesanjose.org/

•

California: Sutter Resource Library (Sutter Hospitals Foundation, Sacramento), http://suttermedicalcenter.org/library/

•

California: Health Sciences Libraries (University of California, Davis), http://www.lib.ucdavis.edu/healthsci/

•

California: ValleyCare Health Library & Ryan Comer Cancer Resource Center (ValleyCare Health System, Pleasanton), http://gaelnet.stmarysca.edu/other.libs/gbal/east/vchl.html

•

California: Washington Community Health Resource Library (Fremont), http://www.healthlibrary.org/

•

Colorado: William V. Gervasini Memorial Library (Exempla Healthcare), http://www.saintjosephdenver.org/yourhealth/libraries/

•

Connecticut: Hartford Hospital Health Science Libraries (Hartford Hospital), http://www.harthosp.org/library/

•

Connecticut: Healthnet: Connecticut Consumer Health Information Center (University of Connecticut Health Center, Lyman Maynard Stowe Library), http://library.uchc.edu/departm/hnet/

27

Abstracted from http://www.nlm.nih.gov/medlineplus/libraries.html.

Finding Medical Libraries

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•

Connecticut: Waterbury Hospital Health Center Library (Waterbury Hospital, Waterbury), http://www.waterburyhospital.com/library/consumer.shtml

•

Delaware: Consumer Health Library (Christiana Care Health System, Eugene du Pont Preventive Medicine & Rehabilitation Institute, Wilmington), http://www.christianacare.org/health_guide/health_guide_pmri_health_info.cfm

•

Delaware: Lewis B. Flinn Library (Delaware Academy of Medicine, Wilmington), http://www.delamed.org/chls.html

•

Georgia: Family Resource Library (Medical College of Georgia, Augusta), http://cmc.mcg.edu/kids_families/fam_resources/fam_res_lib/frl.htm

•

Georgia: Health Resource Center (Medical Center of Central Georgia, Macon), http://www.mccg.org/hrc/hrchome.asp

•

Hawaii: Hawaii Medical Library: Consumer Health Information Service (Hawaii Medical Library, Honolulu), http://hml.org/CHIS/

•

Idaho: DeArmond Consumer Health Library (Kootenai Medical Center, Coeur d’Alene), http://www.nicon.org/DeArmond/index.htm

•

Illinois: Health Learning Center of Northwestern Memorial Hospital (Chicago), http://www.nmh.org/health_info/hlc.html

•

Illinois: Medical Library (OSF Saint Francis Medical Center, Peoria), http://www.osfsaintfrancis.org/general/library/

•

Kentucky: Medical Library - Services for Patients, Families, Students & the Public (Central Baptist Hospital, Lexington), http://www.centralbap.com/education/community/library.cfm

•

Kentucky: University of Kentucky - Health Information Library (Chandler Medical Center, Lexington), http://www.mc.uky.edu/PatientEd/

•

Louisiana: Alton Ochsner Medical Foundation Library (Alton Ochsner Medical Foundation, New Orleans), http://www.ochsner.org/library/

•

Louisiana: Louisiana State University Health Sciences Center Medical LibraryShreveport, http://lib-sh.lsuhsc.edu/

•

Maine: Franklin Memorial Hospital Medical Library (Franklin Memorial Hospital, Farmington), http://www.fchn.org/fmh/lib.htm

•

Maine: Gerrish-True Health Sciences Library (Central Maine Medical Center, Lewiston), http://www.cmmc.org/library/library.html

•

Maine: Hadley Parrot Health Science Library (Eastern Maine Healthcare, Bangor), http://www.emh.org/hll/hpl/guide.htm

•

Maine: Maine Medical Center Library (Maine Medical Center, Portland), http://www.mmc.org/library/

•

Maine: Parkview Hospital (Brunswick), http://www.parkviewhospital.org/

•

Maine: Southern Maine Medical Center Health Sciences Library (Southern Maine Medical Center, Biddeford), http://www.smmc.org/services/service.php3?choice=10

•

Maine: Stephens Memorial Hospital’s Health Information Library (Western Maine Health, Norway), http://www.wmhcc.org/Library/

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•

Manitoba, Canada: Consumer & Patient Health Information Service (University of Manitoba Libraries), http://www.umanitoba.ca/libraries/units/health/reference/chis.html

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Manitoba, Canada: J.W. Crane Memorial Library (Deer Lodge Centre, Winnipeg), http://www.deerlodge.mb.ca/crane_library/about.asp

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Maryland: Health Information Center at the Wheaton Regional Library (Montgomery County, Dept. of Public Libraries, Wheaton Regional Library), http://www.mont.lib.md.us/healthinfo/hic.asp

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Massachusetts: Baystate Medical Center Library (Baystate Health System), http://www.baystatehealth.com/1024/

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Massachusetts: Boston University Medical Center Alumni Medical Library (Boston University Medical Center), http://med-libwww.bu.edu/library/lib.html

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Massachusetts: Lowell General Hospital Health Sciences Library (Lowell General Hospital, Lowell), http://www.lowellgeneral.org/library/HomePageLinks/WWW.htm

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Massachusetts: Paul E. Woodard Health Sciences Library (New England Baptist Hospital, Boston), http://www.nebh.org/health_lib.asp

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Massachusetts: St. Luke’s Hospital Health Sciences Library (St. Luke’s Hospital, Southcoast Health System, New Bedford), http://www.southcoast.org/library/

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Massachusetts: Treadwell Library Consumer Health Reference Center (Massachusetts General Hospital), http://www.mgh.harvard.edu/library/chrcindex.html

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Massachusetts: UMass HealthNet (University of Massachusetts Medical School, Worchester), http://healthnet.umassmed.edu/

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Michigan: Botsford General Hospital Library - Consumer Health (Botsford General Hospital, Library & Internet Services), http://www.botsfordlibrary.org/consumer.htm

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Michigan: Helen DeRoy Medical Library (Providence Hospital and Medical Centers), http://www.providence-hospital.org/library/

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Michigan: Marquette General Hospital - Consumer Health Library (Marquette General Hospital, Health Information Center), http://www.mgh.org/center.html

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Michigan: Patient Education Resouce Center - University of Michigan Cancer Center (University of Michigan Comprehensive Cancer Center, Ann Arbor), http://www.cancer.med.umich.edu/learn/leares.htm

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Michigan: Sladen Library & Center for Health Information Resources - Consumer Health Information (Detroit), http://www.henryford.com/body.cfm?id=39330

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Montana: Center for Health Information (St. Patrick Hospital and Health Sciences Center, Missoula)

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National: Consumer Health Library Directory (Medical Library Association, Consumer and Patient Health Information Section), http://caphis.mlanet.org/directory/index.html

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National: National Network of Libraries of Medicine (National Library of Medicine) provides library services for health professionals in the United States who do not have access to a medical library, http://nnlm.gov/

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National: NN/LM List of Libraries Serving the Public (National Network of Libraries of Medicine), http://nnlm.gov/members/

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Nevada: Health Science Library, West Charleston Library (Las Vegas-Clark County Library District, Las Vegas), http://www.lvccld.org/special_collections/medical/index.htm

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New Hampshire: Dartmouth Biomedical Libraries (Dartmouth College Library, Hanover), http://www.dartmouth.edu/~biomed/resources.htmld/conshealth.htmld/

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New Jersey: Consumer Health Library (Rahway Hospital, Rahway), http://www.rahwayhospital.com/library.htm

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New Jersey: Dr. Walter Phillips Health Sciences Library (Englewood Hospital and Medical Center, Englewood), http://www.englewoodhospital.com/links/index.htm

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New Jersey: Meland Foundation (Englewood Hospital and Medical Center, Englewood), http://www.geocities.com/ResearchTriangle/9360/

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New York: Choices in Health Information (New York Public Library) - NLM Consumer Pilot Project participant, http://www.nypl.org/branch/health/links.html

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New York: Health Information Center (Upstate Medical University, State University of New York, Syracuse), http://www.upstate.edu/library/hic/

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New York: Health Sciences Library (Long Island Jewish Medical Center, New Hyde Park), http://www.lij.edu/library/library.html

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New York: ViaHealth Medical Library (Rochester General Hospital), http://www.nyam.org/library/

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Ohio: Consumer Health Library (Akron General Medical Center, Medical & Consumer Health Library), http://www.akrongeneral.org/hwlibrary.htm

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Oklahoma: The Health Information Center at Saint Francis Hospital (Saint Francis Health System, Tulsa), http://www.sfh-tulsa.com/services/healthinfo.asp

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Oregon: Planetree Health Resource Center (Mid-Columbia Medical Center, The Dalles), http://www.mcmc.net/phrc/

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Pennsylvania: Community Health Information Library (Milton S. Hershey Medical Center, Hershey), http://www.hmc.psu.edu/commhealth/

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Pennsylvania: Community Health Resource Library (Geisinger Medical Center, Danville), http://www.geisinger.edu/education/commlib.shtml

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Pennsylvania: HealthInfo Library (Moses Taylor Hospital, Scranton), http://www.mth.org/healthwellness.html

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Pennsylvania: Hopwood Library (University of Pittsburgh, Health Sciences Library System, Pittsburgh), http://www.hsls.pitt.edu/guides/chi/hopwood/index_html

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Pennsylvania: Koop Community Health Information Center (College of Physicians of Philadelphia), http://www.collphyphil.org/kooppg1.shtml

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Pennsylvania: Learning Resources Center - Medical Library (Susquehanna Health System, Williamsport), http://www.shscares.org/services/lrc/index.asp

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Pennsylvania: Medical Library (UPMC Health System, Pittsburgh), http://www.upmc.edu/passavant/library.htm

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Quebec, Canada: Medical Library (Montreal General Hospital), http://www.mghlib.mcgill.ca/

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South Dakota: Rapid City Regional Hospital Medical Library (Rapid City Regional Hospital), http://www.rcrh.org/Services/Library/Default.asp

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Texas: Houston HealthWays (Houston Academy of Medicine-Texas Medical Center Library), http://hhw.library.tmc.edu/

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Washington: Community Health Library (Kittitas Valley Community Hospital), http://www.kvch.com/

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Washington: Southwest Washington Medical Center Library (Southwest Washington Medical Center, Vancouver), http://www.swmedicalcenter.com/body.cfm?id=72

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ONLINE GLOSSARIES The Internet provides access to a number of free-to-use medical dictionaries. The National Library of Medicine has compiled the following list of online dictionaries: •

ADAM Medical Encyclopedia (A.D.A.M., Inc.), comprehensive medical reference: http://www.nlm.nih.gov/medlineplus/encyclopedia.html

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MedicineNet.com Medical Dictionary (MedicineNet, Inc.): http://www.medterms.com/Script/Main/hp.asp

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Merriam-Webster Medical Dictionary (Inteli-Health, Inc.): http://www.intelihealth.com/IH/

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Multilingual Glossary of Technical and Popular Medical Terms in Eight European Languages (European Commission) - Danish, Dutch, English, French, German, Italian, Portuguese, and Spanish: http://allserv.rug.ac.be/~rvdstich/eugloss/welcome.html

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On-line Medical Dictionary (CancerWEB): http://cancerweb.ncl.ac.uk/omd/

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Rare Diseases Terms (Office of Rare Diseases): http://ord.aspensys.com/asp/diseases/diseases.asp

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Technology Glossary (National Library of Medicine) - Health Care Technology: http://www.nlm.nih.gov/nichsr/ta101/ta10108.htm

Beyond these, MEDLINEplus contains a very patient-friendly encyclopedia covering every aspect of medicine (licensed from A.D.A.M., Inc.). The ADAM Medical Encyclopedia can be accessed at http://www.nlm.nih.gov/medlineplus/encyclopedia.html. ADAM is also available on commercial Web sites such as drkoop.com (http://www.drkoop.com/) and Web MD (http://my.webmd.com/adam/asset/adam_disease_articles/a_to_z/a). The NIH suggests the following Web sites in the ADAM Medical Encyclopedia when searching for information on achondroplasia: •

Basic Guidelines for Achondroplasia Achondroplasia Web site: http://www.nlm.nih.gov/medlineplus/ency/article/001577.htm

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Signs & Symptoms for Achondroplasia Frontal bossing Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003301.htm Hypotonia Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003298.htm Lordosis Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003278.htm Polyhydramnios Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003267.htm

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Short stature Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003271.htm Skeletal (limb) abnormalities Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003170.htm Waddling gait Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003199.htm •

Diagnostics and Tests for Achondroplasia Bone X-ray Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003808.htm X-ray Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003337.htm

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Background Topics for Achondroplasia Autosomal dominant Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm Gene Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002371.htm Genetic counseling Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002053.htm Homozygous Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002048.htm Long bones Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002249.htm Occipital-frontal circumference Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002379.htm Proximal Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002287.htm

Online Dictionary Directories The following are additional online directories compiled by the National Library of Medicine, including a number of specialized medical dictionaries: •

Medical Dictionaries: Medical & Biological (World Health Organization): http://www.who.int/hlt/virtuallibrary/English/diction.htm#Medical

•

MEL-Michigan Electronic Library List of Online Health and Medical Dictionaries (Michigan Electronic Library): http://mel.lib.mi.us/health/health-dictionaries.html

Online Glossaries 103

•

Patient Education: Glossaries (DMOZ Open Directory Project): http://dmoz.org/Health/Education/Patient_Education/Glossaries/

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Web of Online Dictionaries (Bucknell University): http://www.yourdictionary.com/diction5.html#medicine

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ACHONDROPLASIA DICTIONARY The definitions below are derived from official public sources, including the National Institutes of Health [NIH] and the European Union [EU]. Abdominal: Having to do with the abdomen, which is the part of the body between the chest and the hips that contains the pancreas, stomach, intestines, liver, gallbladder, and other organs. [NIH] Aberrant: Wandering or deviating from the usual or normal course. [EU] Acanthosis Nigricans: A circumscribed melanosis consisting of a brown-pigmented, velvety verrucosity or fine papillomatosis appearing in the axillae and other body folds. It occurs in association with endocrine disorders, underlying malignancy, administration of certain drugs, or as in inherited disorder. [NIH] Adaptability: Ability to develop some form of tolerance to conditions extremely different from those under which a living organism evolved. [NIH] Aetiology: Study of the causes of disease. [EU] Affinity: 1. Inherent likeness or relationship. 2. A special attraction for a specific element, organ, or structure. 3. Chemical affinity; the force that binds atoms in molecules; the tendency of substances to combine by chemical reaction. 4. The strength of noncovalent chemical binding between two substances as measured by the dissociation constant of the complex. 5. In immunology, a thermodynamic expression of the strength of interaction between a single antigen-binding site and a single antigenic determinant (and thus of the stereochemical compatibility between them), most accurately applied to interactions among simple, uniform antigenic determinants such as haptens. Expressed as the association constant (K litres mole -1), which, owing to the heterogeneity of affinities in a population of antibody molecules of a given specificity, actually represents an average value (mean intrinsic association constant). 6. The reciprocal of the dissociation constant. [EU] Airway: A device for securing unobstructed passage of air into and out of the lungs during general anesthesia. [NIH] Airway Obstruction: Any hindrance to the passage of air into and out of the lungs. [NIH] Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task. [NIH] Alkaline: Having the reactions of an alkali. [EU] Alleles: Mutually exclusive forms of the same gene, occupying the same locus on homologous chromosomes, and governing the same biochemical and developmental process. [NIH] Alpha-fetoprotein: AFP. A protein normally produced by a developing fetus. AFP levels are usually undetectable in the blood of healthy nonpregnant adults. An elevated level of AFP suggests the presence of either a primary liver cancer or germ cell tumor. [NIH] Alternative medicine: Practices not generally recognized by the medical community as standard or conventional medical approaches and used instead of standard treatments. Alternative medicine includes the taking of dietary supplements, megadose vitamins, and herbal preparations; the drinking of special teas; and practices such as massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This

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is referred to as the primary structure of proteins. It is of fundamental importance in determining protein conformation. [NIH] Amino Acids: Organic compounds that generally contain an amino (-NH2) and a carboxyl (COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. [NIH] Amino Acids: Organic compounds that generally contain an amino (-NH2) and a carboxyl (COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. [NIH] Amino-terminal: The end of a protein or polypeptide chain that contains a free amino group (-NH2). [NIH] Amnion: The extraembryonic membrane which contains the embryo and amniotic fluid. [NIH]

Amniotic Fluid: Amniotic cavity fluid which is produced by the amnion and fetal lungs and kidneys. [NIH] Anaesthesia: Loss of feeling or sensation. Although the term is used for loss of tactile sensibility, or of any of the other senses, it is applied especially to loss of the sensation of pain, as it is induced to permit performance of surgery or other painful procedures. [EU] Analogous: Resembling or similar in some respects, as in function or appearance, but not in origin or development;. [EU] Anatomical: Pertaining to anatomy, or to the structure of the organism. [EU] Anemia: A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. [NIH] Anesthesia: A state characterized by loss of feeling or sensation. This depression of nerve function is usually the result of pharmacologic action and is induced to allow performance of surgery or other painful procedures. [NIH] Angiogenesis: Blood vessel formation. Tumor angiogenesis is the growth of blood vessels from surrounding tissue to a solid tumor. This is caused by the release of chemicals by the tumor. [NIH] Animal model: An animal with a disease either the same as or like a disease in humans. Animal models are used to study the development and progression of diseases and to test new treatments before they are given to humans. Animals with transplanted human cancers or other tissues are called xenograft models. [NIH] Annealing: The spontaneous alignment of two single DNA strands to form a double helix. [NIH]

Anomalies: Birth defects; abnormalities. [NIH] Antibacterial: A substance that destroys bacteria or suppresses their growth or reproduction. [EU] Antibiotic: A drug used to treat infections caused by bacteria and other microorganisms. [NIH]

Antibody: A type of protein made by certain white blood cells in response to a foreign substance (antigen). Each antibody can bind to only a specific antigen. The purpose of this binding is to help destroy the antigen. Antibodies can work in several ways, depending on the nature of the antigen. Some antibodies destroy antigens directly. Others make it easier for white blood cells to destroy the antigen. [NIH] Anticoagulant: A drug that helps prevent blood clots from forming. Also called a blood thinner. [NIH]

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Antigen: Any substance which is capable, under appropriate conditions, of inducing a specific immune response and of reacting with the products of that response, that is, with specific antibody or specifically sensitized T-lymphocytes, or both. Antigens may be soluble substances, such as toxins and foreign proteins, or particulate, such as bacteria and tissue cells; however, only the portion of the protein or polysaccharide molecule known as the antigenic determinant (q.v.) combines with antibody or a specific receptor on a lymphocyte. Abbreviated Ag. [EU] Anus: The opening of the rectum to the outside of the body. [NIH] Apnea: A transient absence of spontaneous respiration. [NIH] Apoptosis: One of the two mechanisms by which cell death occurs (the other being the pathological process of necrosis). Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. It is characterized by distinctive morphologic changes in the nucleus and cytoplasm, chromatin cleavage at regularly spaced sites, and the endonucleolytic cleavage of genomic DNA (DNA fragmentation) at internucleosomal sites. This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth. [NIH] Aqueous: Having to do with water. [NIH] Arterial: Pertaining to an artery or to the arteries. [EU] Arteries: The vessels carrying blood away from the heart. [NIH] Articular: Of or pertaining to a joint. [EU] Aseptic: Free from infection or septic material; sterile. [EU] Ataxia: Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharnyx, larnyx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. [NIH] Atresia: Lack of a normal opening from the esophagus, intestines, or anus. [NIH] Atrophy: Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. [NIH] Auditory: Pertaining to the sense of hearing. [EU] Bacteria: Unicellular prokaryotic microorganisms which generally possess rigid cell walls, multiply by cell division, and exhibit three principal forms: round or coccal, rodlike or bacillary, and spiral or spirochetal. [NIH] Bacteriophage: A virus whose host is a bacterial cell; A virus that exclusively infects bacteria. It generally has a protein coat surrounding the genome (DNA or RNA). One of the coliphages most extensively studied is the lambda phage, which is also one of the most important. [NIH] Basal Ganglia: Large subcortical nuclear masses derived from the telencephalon and located in the basal regions of the cerebral hemispheres. [NIH] Basal Ganglia Diseases: Diseases of the basal ganglia including the putamen; globus pallidus; claustrum; amygdala; and caudate nucleus. Dyskinesias (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include cerebrovascular disease;

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neurodegenerative diseases; and craniocerebral trauma. [NIH] Base: In chemistry, the nonacid part of a salt; a substance that combines with acids to form salts; a substance that dissociates to give hydroxide ions in aqueous solutions; a substance whose molecule or ion can combine with a proton (hydrogen ion); a substance capable of donating a pair of electrons (to an acid) for the formation of a coordinate covalent bond. [EU] Base Sequence: The sequence of purines and pyrimidines in nucleic acids and polynucleotides. It is also called nucleotide or nucleoside sequence. [NIH] Basement Membrane: Ubiquitous supportive tissue adjacent to epithelium and around smooth and striated muscle cells. This tissue contains intrinsic macromolecular components such as collagen, laminin, and sulfated proteoglycans. As seen by light microscopy one of its subdivisions is the basal (basement) lamina. [NIH] Benign: Not cancerous; does not invade nearby tissue or spread to other parts of the body. [NIH]

Bilateral: Affecting both the right and left side of body. [NIH] Biochemical: Relating to biochemistry; characterized by, produced by, or involving chemical reactions in living organisms. [EU] Biogenesis: The origin of life. It includes studies of the potential basis for life in organic compounds but excludes studies of the development of altered forms of life through mutation and natural selection, which is evolution. [NIH] Biosynthesis: The building up of a chemical compound in the physiologic processes of a living organism. [EU] Biotechnology: Body of knowledge related to the use of organisms, cells or cell-derived constituents for the purpose of developing products which are technically, scientifically and clinically useful. Alteration of biologic function at the molecular level (i.e., genetic engineering) is a central focus; laboratory methods used include transfection and cloning technologies, sequence and structure analysis algorithms, computer databases, and gene and protein structure function analysis and prediction. [NIH] Bladder: The organ that stores urine. [NIH] Blood Coagulation: The process of the interaction of blood coagulation factors that results in an insoluble fibrin clot. [NIH] Blood Platelets: Non-nucleated disk-shaped cells formed in the megakaryocyte and found in the blood of all mammals. They are mainly involved in blood coagulation. [NIH] Blood pressure: The pressure of blood against the walls of a blood vessel or heart chamber. Unless there is reference to another location, such as the pulmonary artery or one of the heart chambers, it refers to the pressure in the systemic arteries, as measured, for example, in the forearm. [NIH] Blood vessel: A tube in the body through which blood circulates. Blood vessels include a network of arteries, arterioles, capillaries, venules, and veins. [NIH] Bone Development: Gross development of bones from fetus to adult. It includes osteogenesis, which is restricted to formation and development of bone from the undifferentiated cells of the germ layers of the embryo. It does not include osseointegration. [NIH]

Bowel: The long tube-shaped organ in the abdomen that completes the process of digestion. There is both a small and a large bowel. Also called the intestine. [NIH] Bowel Movement: Body wastes passed through the rectum and anus. [NIH] Brachial: All the nerves from the arm are ripped from the spinal cord. [NIH]

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Branch: Most commonly used for branches of nerves, but applied also to other structures. [NIH]

Caesarean section: A surgical incision through the abdominal and uterine walls in order to deliver a baby. [NIH] Calcium: A basic element found in nearly all organized tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes. [NIH] Callus: A callosity or hard, thick skin; the bone-like reparative substance that is formed round the edges and fragments of broken bone. [NIH] Calmodulin: A heat-stable, low-molecular-weight activator protein found mainly in the brain and heart. The binding of calcium ions to this protein allows this protein to bind to cyclic nucleotide phosphodiesterases and to adenyl cyclase with subsequent activation. Thereby this protein modulates cyclic AMP and cyclic GMP levels. [NIH] Carbohydrate: An aldehyde or ketone derivative of a polyhydric alcohol, particularly of the pentahydric and hexahydric alcohols. They are so named because the hydrogen and oxygen are usually in the proportion to form water, (CH2O)n. The most important carbohydrates are the starches, sugars, celluloses, and gums. They are classified into mono-, di-, tri-, polyand heterosaccharides. [EU] Carcinogenic: Producing carcinoma. [EU] Carcinogens: Substances that increase the risk of neoplasms in humans or animals. Both genotoxic chemicals, which affect DNA directly, and nongenotoxic chemicals, which induce neoplasms by other mechanism, are included. [NIH] Cardiopulmonary: Having to do with the heart and lungs. [NIH] Carotene: The general name for a group of pigments found in green, yellow, and leafy vegetables, and yellow fruits. The pigments are fat-soluble, unsaturated aliphatic hydrocarbons functioning as provitamins and are converted to vitamin A through enzymatic processes in the intestinal wall. [NIH] Case report: A detailed report of the diagnosis, treatment, and follow-up of an individual patient. Case reports also contain some demographic information about the patient (for example, age, gender, ethnic origin). [NIH] Cataracts: In medicine, an opacity of the crystalline lens of the eye obstructing partially or totally its transmission of light. [NIH] Cell: The individual unit that makes up all of the tissues of the body. All living things are made up of one or more cells. [NIH] Cell Cycle: The complex series of phenomena, occurring between the end of one cell division and the end of the next, by which cellular material is divided between daughter cells. [NIH] Cell Death: The termination of the cell's ability to carry out vital functions such as metabolism, growth, reproduction, responsiveness, and adaptability. [NIH] Cell Differentiation: Progressive restriction of the developmental potential and increasing specialization of function which takes place during the development of the embryo and leads to the formation of specialized cells, tissues, and organs. [NIH] Cell Division: The fission of a cell. [NIH]

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Cell proliferation: An increase in the number of cells as a result of cell growth and cell division. [NIH] Central Nervous System: The main information-processing organs of the nervous system, consisting of the brain, spinal cord, and meninges. [NIH] Cerebellar: Pertaining to the cerebellum. [EU] Cerebral: Of or pertaining of the cerebrum or the brain. [EU] Cerebrum: The largest part of the brain. It is divided into two hemispheres, or halves, called the cerebral hemispheres. The cerebrum controls muscle functions of the body and also controls speech, emotions, reading, writing, and learning. [NIH] Cervical: Relating to the neck, or to the neck of any organ or structure. Cervical lymph nodes are located in the neck; cervical cancer refers to cancer of the uterine cervix, which is the lower, narrow end (the "neck") of the uterus. [NIH] Cervix: The lower, narrow end of the uterus that forms a canal between the uterus and vagina. [NIH] Chest wall: The ribs and muscles, bones, and joints that make up the area of the body between the neck and the abdomen. [NIH] Chondrogenesis: The formation of cartilage. This process is directed by chondrocytes which continually divide and lay down matrix during development. It is sometimes a precursor to osteogenesis. [NIH] Chondroitin sulfate: The major glycosaminoglycan (a type of sugar molecule) in cartilage. [NIH]

Chromatin: The material of chromosomes. It is a complex of DNA, histones, and nonhistone proteins (chromosomal proteins, non-histone) found within the nucleus of a cell. [NIH] Chromosomal: Pertaining to chromosomes. [EU] Chromosome: Part of a cell that contains genetic information. Except for sperm and eggs, all human cells contain 46 chromosomes. [NIH] Chronic: A disease or condition that persists or progresses over a long period of time. [NIH] Chronic renal: Slow and progressive loss of kidney function over several years, often resulting in end-stage renal disease. People with end-stage renal disease need dialysis or transplantation to replace the work of the kidneys. [NIH] Circulatory system: The system that contains the heart and the blood vessels and moves blood throughout the body. This system helps tissues get enough oxygen and nutrients, and it helps them get rid of waste products. The lymph system, which connects with the blood system, is often considered part of the circulatory system. [NIH] CIS: Cancer Information Service. The CIS is the National Cancer Institute's link to the public, interpreting and explaining research findings in a clear and understandable manner, and providing personalized responses to specific questions about cancer. Access the CIS by calling 1-800-4-CANCER, or by using the Web site at http://cis.nci.nih.gov. [NIH] Clear cell carcinoma: A rare type of tumor of the female genital tract in which the inside of the cells looks clear when viewed under a microscope. [NIH] Clinical trial: A research study that tests how well new medical treatments or other interventions work in people. Each study is designed to test new methods of screening, prevention, diagnosis, or treatment of a disease. [NIH] Cloning: The production of a number of genetically identical individuals; in genetic engineering, a process for the efficient replication of a great number of identical DNA molecules. [NIH]

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Cofactor: A substance, microorganism or environmental factor that activates or enhances the action of another entity such as a disease-causing agent. [NIH] Collagen: A polypeptide substance comprising about one third of the total protein in mammalian organisms. It is the main constituent of skin, connective tissue, and the organic substance of bones and teeth. Different forms of collagen are produced in the body but all consist of three alpha-polypeptide chains arranged in a triple helix. Collagen is differentiated from other fibrous proteins, such as elastin, by the content of proline, hydroxyproline, and hydroxylysine; by the absence of tryptophan; and particularly by the high content of polar groups which are responsible for its swelling properties. [NIH] Collapse: 1. A state of extreme prostration and depression, with failure of circulation. 2. Abnormal falling in of the walls of any part of organ. [EU] Complement: A term originally used to refer to the heat-labile factor in serum that causes immune cytolysis, the lysis of antibody-coated cells, and now referring to the entire functionally related system comprising at least 20 distinct serum proteins that is the effector not only of immune cytolysis but also of other biologic functions. Complement activation occurs by two different sequences, the classic and alternative pathways. The proteins of the classic pathway are termed 'components of complement' and are designated by the symbols C1 through C9. C1 is a calcium-dependent complex of three distinct proteins C1q, C1r and C1s. The proteins of the alternative pathway (collectively referred to as the properdin system) and complement regulatory proteins are known by semisystematic or trivial names. Fragments resulting from proteolytic cleavage of complement proteins are designated with lower-case letter suffixes, e.g., C3a. Inactivated fragments may be designated with the suffix 'i', e.g. C3bi. Activated components or complexes with biological activity are designated by a bar over the symbol e.g. C1 or C4b,2a. The classic pathway is activated by the binding of C1 to classic pathway activators, primarily antigen-antibody complexes containing IgM, IgG1, IgG3; C1q binds to a single IgM molecule or two adjacent IgG molecules. The alternative pathway can be activated by IgA immune complexes and also by nonimmunologic materials including bacterial endotoxins, microbial polysaccharides, and cell walls. Activation of the classic pathway triggers an enzymatic cascade involving C1, C4, C2 and C3; activation of the alternative pathway triggers a cascade involving C3 and factors B, D and P. Both result in the cleavage of C5 and the formation of the membrane attack complex. Complement activation also results in the formation of many biologically active complement fragments that act as anaphylatoxins, opsonins, or chemotactic factors. [EU] Complementary and alternative medicine: CAM. Forms of treatment that are used in addition to (complementary) or instead of (alternative) standard treatments. These practices are not considered standard medical approaches. CAM includes dietary supplements, megadose vitamins, herbal preparations, special teas, massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Complementary medicine: Practices not generally recognized by the medical community as standard or conventional medical approaches and used to enhance or complement the standard treatments. Complementary medicine includes the taking of dietary supplements, megadose vitamins, and herbal preparations; the drinking of special teas; and practices such as massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Computational Biology: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories applicable to molecular biology and areas of computer-based techniques for solving biological problems including manipulation of models and datasets. [NIH] Computed tomography: CT scan. A series of detailed pictures of areas inside the body,

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taken from different angles; the pictures are created by a computer linked to an x-ray machine. Also called computerized tomography and computerized axial tomography (CAT) scan. [NIH] Computerized axial tomography: A series of detailed pictures of areas inside the body, taken from different angles; the pictures are created by a computer linked to an x-ray machine. Also called CAT scan, computed tomography (CT scan), or computerized tomography. [NIH] Computerized tomography: A series of detailed pictures of areas inside the body, taken from different angles; the pictures are created by a computer linked to an x-ray machine. Also called computerized axial tomography (CAT) scan and computed tomography (CT scan). [NIH] Conception: The onset of pregnancy, marked by implantation of the blastocyst; the formation of a viable zygote. [EU] Cones: One type of specialized light-sensitive cells (photoreceptors) in the retina that provide sharp central vision and color vision. [NIH] Congenita: Displacement, subluxation, or malposition of the crystalline lens. [NIH] Connective Tissue: Tissue that supports and binds other tissues. It consists of connective tissue cells embedded in a large amount of extracellular matrix. [NIH] Connective Tissue: Tissue that supports and binds other tissues. It consists of connective tissue cells embedded in a large amount of extracellular matrix. [NIH] Connective Tissue Cells: A group of cells that includes fibroblasts, cartilage cells, adipocytes, smooth muscle cells, and bone cells. [NIH] Contraindications: Any factor or sign that it is unwise to pursue a certain kind of action or treatment, e. g. giving a general anesthetic to a person with pneumonia. [NIH] Coronary: Encircling in the manner of a crown; a term applied to vessels; nerves, ligaments, etc. The term usually denotes the arteries that supply the heart muscle and, by extension, a pathologic involvement of them. [EU] Coronary Thrombosis: Presence of a thrombus in a coronary artery, often causing a myocardial infarction. [NIH] Cortex: The outer layer of an organ or other body structure, as distinguished from the internal substance. [EU] Cranial: Pertaining to the cranium, or to the anterior (in animals) or superior (in humans) end of the body. [EU] Creatine: An amino acid that occurs in vertebrate tissues and in urine. In muscle tissue, creatine generally occurs as phosphocreatine. Creatine is excreted as creatinine in the urine. [NIH]

Creatine Kinase: A transferase that catalyzes formation of phosphocreatine from ATP + creatine. The reaction stores ATP energy as phosphocreatine. Three cytoplasmic isoenzymes have been identified in human tissues: MM from skeletal muscle, MB from myocardial tissue, and BB from nervous tissue as well as a mitochondrial isoenzyme. Macro-creatine kinase refers to creatine kinase complexed with other serum proteins. EC 2.7.3.2. [NIH] Creatinine: A compound that is excreted from the body in urine. Creatinine levels are measured to monitor kidney function. [NIH] Crossing-over: The exchange of corresponding segments between chromatids of homologous chromosomes during meiosia, forming a chiasma. [NIH] Curative: Tending to overcome disease and promote recovery. [EU]

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Cyclic: Pertaining to or occurring in a cycle or cycles; the term is applied to chemical compounds that contain a ring of atoms in the nucleus. [EU] Cytoplasm: The protoplasm of a cell exclusive of that of the nucleus; it consists of a continuous aqueous solution (cytosol) and the organelles and inclusions suspended in it (phaneroplasm), and is the site of most of the chemical activities of the cell. [EU] Cytotoxic: Cell-killing. [NIH] Databases, Bibliographic: Extensive collections, reputedly complete, of references and citations to books, articles, publications, etc., generally on a single subject or specialized subject area. Databases can operate through automated files, libraries, or computer disks. The concept should be differentiated from factual databases which is used for collections of data and facts apart from bibliographic references to them. [NIH] De novo: In cancer, the first occurrence of cancer in the body. [NIH] Decompression: Decompression external to the body, most often the slow lessening of external pressure on the whole body (especially in caisson workers, deep sea divers, and persons who ascend to great heights) to prevent decompression sickness. It includes also sudden accidental decompression, but not surgical (local) decompression or decompression applied through body openings. [NIH] Decompression Sickness: A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death. [NIH] Degenerative: Undergoing degeneration : tending to degenerate; having the character of or involving degeneration; causing or tending to cause degeneration. [EU] Deletion: A genetic rearrangement through loss of segments of DNA (chromosomes), bringing sequences, which are normally separated, into close proximity. [NIH] Denaturation: Rupture of the hydrogen bonds by heating a DNA solution and then cooling it rapidly causes the two complementary strands to separate. [NIH] Density: The logarithm to the base 10 of the opacity of an exposed and processed film. [NIH] Depolarization: The process or act of neutralizing polarity. In neurophysiology, the reversal of the resting potential in excitable cell membranes when stimulated, i.e., the tendency of the cell membrane potential to become positive with respect to the potential outside the cell. [EU] DES: Diethylstilbestrol. A synthetic hormone that was prescribed from the early 1940s until 1971 to help women with complications of pregnancy. DES has been linked to an increased risk of clear cell carcinoma of the vagina in daughters of women who used DES. DES may also increase the risk of breast cancer in women who used DES. [NIH] Diagnostic procedure: A method used to identify a disease. [NIH] Diastolic: Of or pertaining to the diastole. [EU] Digestive system: The organs that take in food and turn it into products that the body can use to stay healthy. Waste products the body cannot use leave the body through bowel movements. The digestive system includes the salivary glands, mouth, esophagus, stomach, liver, pancreas, gallbladder, small and large intestines, and rectum. [NIH] Diploid: Having two sets of chromosomes. [NIH] Direct: 1. Straight; in a straight line. 2. Performed immediately and without the intervention of subsidiary means. [EU] Dissociation: 1. The act of separating or state of being separated. 2. The separation of a

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molecule into two or more fragments (atoms, molecules, ions, or free radicals) produced by the absorption of light or thermal energy or by solvation. 3. In psychology, a defense mechanism in which a group of mental processes are segregated from the rest of a person's mental activity in order to avoid emotional distress, as in the dissociative disorders (q.v.), or in which an idea or object is segregated from its emotional significance; in the first sense it is roughly equivalent to splitting, in the second, to isolation. 4. A defect of mental integration in which one or more groups of mental processes become separated off from normal consciousness and, thus separated, function as a unitary whole. [EU] Distal: Remote; farther from any point of reference; opposed to proximal. In dentistry, used to designate a position on the dental arch farther from the median line of the jaw. [EU] Dorsal: 1. Pertaining to the back or to any dorsum. 2. Denoting a position more toward the back surface than some other object of reference; same as posterior in human anatomy; superior in the anatomy of quadrupeds. [EU] Dorsum: A plate of bone which forms the posterior boundary of the sella turcica. [NIH] Dwarfism: The condition of being undersized as a result of premature arrest of skeletal growth. It may be caused by insufficient secretion of growth hormone (pituitary dwarfism). [NIH]

Dysplasia: Cells that look abnormal under a microscope but are not cancer. [NIH] Dystrophy: Any disorder arising from defective or faulty nutrition, especially the muscular dystrophies. [EU] Elastin: The protein that gives flexibility to tissues. [NIH] Embryo: The prenatal stage of mammalian development characterized by rapid morphological changes and the differentiation of basic structures. [NIH] Encephalocele: Cerebral tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur. [NIH]

Enchondromatosis: Benign growths of cartilage in the metaphyses of several bones. [NIH] Endemic: Present or usually prevalent in a population or geographical area at all times; said of a disease or agent. Called also endemial. [EU] Endoscope: A thin, lighted tube used to look at tissues inside the body. [NIH] Endothelial cell: The main type of cell found in the inside lining of blood vessels, lymph vessels, and the heart. [NIH] End-stage renal: Total chronic kidney failure. When the kidneys fail, the body retains fluid and harmful wastes build up. A person with ESRD needs treatment to replace the work of the failed kidneys. [NIH] Environmental Exposure: The exposure to potentially harmful chemical, physical, or biological agents in the environment or to environmental factors that may include ionizing radiation, pathogenic organisms, or toxic chemicals. [NIH] Environmental Health: The science of controlling or modifying those conditions, influences, or forces surrounding man which relate to promoting, establishing, and maintaining health. [NIH]

Enzymatic: Phase where enzyme cuts the precursor protein. [NIH] Enzyme: A protein that speeds up chemical reactions in the body. [NIH]

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Epidemic: Occurring suddenly in numbers clearly in excess of normal expectancy; said especially of infectious diseases but applied also to any disease, injury, or other healthrelated event occurring in such outbreaks. [EU] Epinephrine: The active sympathomimetic hormone from the adrenal medulla in most species. It stimulates both the alpha- and beta- adrenergic systems, causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels. It is used in asthma and cardiac failure and to delay absorption of local anesthetics. [NIH] Epiphyseal: Pertaining to or of the nature of an epiphysis. [EU] Epiphyses: The head of a long bone that is separated from the shaft by the epiphyseal plate until bone growth stops. At that time, the plate disappears and the head and shaft are united. [NIH] Erythrocytes: Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing hemoglobin whose function is to transport oxygen. [NIH] Esophagus: The muscular tube through which food passes from the throat to the stomach. [NIH]

Essential Tremor: A rhythmic, involuntary, purposeless, oscillating movement resulting from the alternate contraction and relaxation of opposing groups of muscles. [NIH] Evoked Potentials: The electric response evoked in the central nervous system by stimulation of sensory receptors or some point on the sensory pathway leading from the receptor to the cortex. The evoked stimulus can be auditory, somatosensory, or visual, although other modalities have been reported. Event-related potentials is sometimes used synonymously with evoked potentials but is often associated with the execution of a motor, cognitive, or psychophysiological task, as well as with the response to a stimulus. [NIH] Exon: The part of the DNA that encodes the information for the actual amino acid sequence of the protein. In many eucaryotic genes, the coding sequences consist of a series of exons alternating with intron sequences. [NIH] Extracellular: Outside a cell or cells. [EU] Extracellular Matrix: A meshwork-like substance found within the extracellular space and in association with the basement membrane of the cell surface. It promotes cellular proliferation and provides a supporting structure to which cells or cell lysates in culture dishes adhere. [NIH] Extracellular Space: Interstitial space between cells, occupied by fluid as well as amorphous and fibrous substances. [NIH] Family Planning: Programs or services designed to assist the family in controlling reproduction by either improving or diminishing fertility. [NIH] Family Relations: Behavioral, psychological, and social relations among various members of the nuclear family and the extended family. [NIH] Fat: Total lipids including phospholipids. [NIH] Femoral: Pertaining to the femur, or to the thigh. [EU] Femur: The longest and largest bone of the skeleton, it is situated between the hip and the knee. [NIH] Fetal Alcohol Syndrome: A disorder occurring in children born to alcoholic women who continue to drink heavily during pregnancy. Common abnormalities are growth deficiency (prenatal and postnatal), altered morphogenesis, mental deficiency, and characteristic facies - small eyes and flattened nasal bridge. Fine motor dysfunction and tremulousness are

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observed in the newborn. [NIH] Fetal Development: Morphologic and physiologic growth and development of the mammalian embryo or fetus. [NIH] Fetoprotein: Transabdominal aspiration of fluid from the amniotic sac with a view to detecting increases of alpha-fetoprotein in maternal blood during pregnancy, as this is an important indicator of open neural tube defects in the fetus. [NIH] Fetus: The developing offspring from 7 to 8 weeks after conception until birth. [NIH] Fibril: Most bacterial viruses have a hollow tail with specialized fibrils at its tip. The tail fibers attach to the cell wall of the host. [NIH] Fibroblast Growth Factor: Peptide isolated from the pituitary gland and from the brain. It is a potent mitogen which stimulates growth of a variety of mesodermal cells including chondrocytes, granulosa, and endothelial cells. The peptide may be active in wound healing and animal limb regeneration. [NIH] Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. [NIH] Fibrosis: Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury. [NIH] Fibula: The bone of the lower leg lateral to and smaller than the tibia. In proportion to its length, it is the most slender of the long bones. [NIH] Flexion: In gynaecology, a displacement of the uterus in which the organ is bent so far forward or backward that an acute angle forms between the fundus and the cervix. [EU] Folate: A B-complex vitamin that is being studied as a cancer prevention agent. Also called folic acid. [NIH] Folic Acid: N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-Lglutamic acid. A member of the vitamin B family that stimulates the hematopoietic system. It is present in the liver and kidney and is found in mushrooms, spinach, yeast, green leaves, and grasses. Folic acid is used in the treatment and prevention of folate deficiencies and megaloblastic anemia. [NIH] Foramen: A natural hole of perforation, especially one in a bone. [NIH] Fossa: A cavity, depression, or pit. [NIH] Frameshift: A type of mutation which causes out-of-phase transcription of the base sequence; such mutations arise from the addition or delection of nucleotide(s) in numbers other than 3 or multiples of 3. [NIH] Frameshift Mutation: A type of mutation in which a number of nucleotides not divisible by three is deleted from or inserted into a coding sequence, thereby causing an alteration in the reading frame of the entire sequence downstream of the mutation. These mutations may be induced by certain types of mutagens or may occur spontaneously. [NIH] Gait: Manner or style of walking. [NIH] Gallbladder: The pear-shaped organ that sits below the liver. Bile is concentrated and stored in the gallbladder. [NIH] Ganglia: Clusters of multipolar neurons surrounded by a capsule of loosely organized connective tissue located outside the central nervous system. [NIH] Gas: Air that comes from normal breakdown of food. The gases are passed out of the body through the rectum (flatus) or the mouth (burp). [NIH] Gas exchange: Primary function of the lungs; transfer of oxygen from inhaled air into the

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blood and of carbon dioxide from the blood into the lungs. [NIH] Gastrin: A hormone released after eating. Gastrin causes the stomach to produce more acid. [NIH]

Gene: The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein. [NIH]

Gene Expression: The phenotypic manifestation of a gene or genes by the processes of gene action. [NIH] Genetic testing: Analyzing DNA to look for a genetic alteration that may indicate an increased risk for developing a specific disease or disorder. [NIH] Genetics: The biological science that deals with the phenomena and mechanisms of heredity. [NIH] Genotype: The genetic constitution of the individual; the characterization of the genes. [NIH] Germ Cells: The reproductive cells in multicellular organisms. [NIH] Germ Layers: The three layers of cells comprising the early embryo. [NIH] Gestation: The period of development of the young in viviparous animals, from the time of fertilization of the ovum until birth. [EU] Gland: An organ that produces and releases one or more substances for use in the body. Some glands produce fluids that affect tissues or organs. Others produce hormones or participate in blood production. [NIH] Glucose: D-Glucose. A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement. [NIH] Glutamic Acid: A non-essential amino acid naturally occurring in the L-form. Glutamic acid (glutamate) is the most common excitatory neurotransmitter in the central nervous system. [NIH]

Glycosaminoglycan: A type of long, unbranched polysaccharide molecule. Glycosaminoglycans are major structural components of cartilage and are also found in the cornea of the eye. [NIH] Glycosylation: The chemical or biochemical addition of carbohydrate or glycosyl groups to other chemicals, especially peptides or proteins. Glycosyl transferases are used in this biochemical reaction. [NIH] Governing Board: The group in which legal authority is vested for the control of healthrelated institutions and organizations. [NIH] Granulocytes: Leukocytes with abundant granules in the cytoplasm. They are divided into three groups: neutrophils, eosinophils, and basophils. [NIH] Grasses: A large family, Gramineae, of narrow-leaved herbaceous monocots. Many grasses produce highly allergenic pollens and are hosts to cattle parasites and toxic fungi. [NIH] Growth: The progressive development of a living being or part of an organism from its earliest stage to maturity. [NIH] Growth Plate: The area between the epiphysis and the diaphysis within which bone growth occurs. [NIH] Gynaecological: Pertaining to gynaecology. [EU] Haptens: Small antigenic determinants capable of eliciting an immune response only when coupled to a carrier. Haptens bind to antibodies but by themselves cannot elicit an antibody

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response. [NIH] Health Status: The level of health of the individual, group, or population as subjectively assessed by the individual or by more objective measures. [NIH] Hemoglobin: One of the fractions of glycosylated hemoglobin A1c. Glycosylated hemoglobin is formed when linkages of glucose and related monosaccharides bind to hemoglobin A and its concentration represents the average blood glucose level over the previous several weeks. HbA1c levels are used as a measure of long-term control of plasma glucose (normal, 4 to 6 percent). In controlled diabetes mellitus, the concentration of glycosylated hemoglobin A is within the normal range, but in uncontrolled cases the level may be 3 to 4 times the normal conentration. Generally, complications are substantially lower among patients with Hb levels of 7 percent or less than in patients with HbA1c levels of 9 percent or more. [NIH] Hemoglobinuria: The presence of free hemoglobin in the urine. [NIH] Hemorrhage: Bleeding or escape of blood from a vessel. [NIH] Hereditary: Of, relating to, or denoting factors that can be transmitted genetically from one generation to another. [NIH] Heredity: 1. The genetic transmission of a particular quality or trait from parent to offspring. 2. The genetic constitution of an individual. [EU] Heterogeneity: The property of one or more samples or populations which implies that they are not identical in respect of some or all of their parameters, e. g. heterogeneity of variance. [NIH]

Heterozygotes: Having unlike alleles at one or more corresponding loci on homologous chromosomes. [NIH] Homologous: Corresponding in structure, position, origin, etc., as (a) the feathers of a bird and the scales of a fish, (b) antigen and its specific antibody, (c) allelic chromosomes. [EU] Hormonal: Pertaining to or of the nature of a hormone. [EU] Hormone: A substance in the body that regulates certain organs. Hormones such as gastrin help in breaking down food. Some hormones come from cells in the stomach and small intestine. [NIH] Hormone therapy: Treatment of cancer by removing, blocking, or adding hormones. Also called endocrine therapy. [NIH] Host: Any animal that receives a transplanted graft. [NIH] Human growth hormone: A protein hormone, secreted by the anterior lobe of the pituitary, which promotes growth of the whole body by stimulating protein synthesis. The human gene has already been cloned and successfully expressed in bacteria. [NIH] Humeral: 1. Of, relating to, or situated in the region of the humerus: brachial. 2. Of or belonging to the shoulder. 3. Of, relating to, or being any of several body parts that are analogous in structure, function, or location to the humerus or shoulder. [EU] Humoral: Of, relating to, proceeding from, or involving a bodily humour - now often used of endocrine factors as opposed to neural or somatic. [EU] Hybrid: Cross fertilization between two varieties or, more usually, two species of vines, see also crossing. [NIH] Hydrogen: The first chemical element in the periodic table. It has the atomic symbol H, atomic number 1, and atomic weight 1. It exists, under normal conditions, as a colorless, odorless, tasteless, diatomic gas. Hydrogen ions are protons. Besides the common H1 isotope, hydrogen exists as the stable isotope deuterium and the unstable, radioactive

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isotope tritium. [NIH] Hydrophobic: Not readily absorbing water, or being adversely affected by water, as a hydrophobic colloid. [EU] Hydroxylysine: A hydroxylated derivative of the amino acid lysine that is present in certain collagens. [NIH] Hydroxyproline: A hydroxylated form of the imino acid proline. A deficiency in ascorbic acid can result in impaired hydroxyproline formation. [NIH] Hypertension: Persistently high arterial blood pressure. Currently accepted threshold levels are 140 mm Hg systolic and 90 mm Hg diastolic pressure. [NIH] Hypoplasia: Incomplete development or underdevelopment of an organ or tissue. [EU] Hypothalamic: Of or involving the hypothalamus. [EU] Hypothalamus: Ventral part of the diencephalon extending from the region of the optic chiasm to the caudal border of the mammillary bodies and forming the inferior and lateral walls of the third ventricle. [NIH] Hypothyroidism: Deficiency of thyroid activity. In adults, it is most common in women and is characterized by decrease in basal metabolic rate, tiredness and lethargy, sensitivity to cold, and menstrual disturbances. If untreated, it progresses to full-blown myxoedema. In infants, severe hypothyroidism leads to cretinism. In juveniles, the manifestations are intermediate, with less severe mental and developmental retardation and only mild symptoms of the adult form. When due to pituitary deficiency of thyrotropin secretion it is called secondary hypothyroidism. [EU] Hypotonia: A condition of diminished tone of the skeletal muscles; diminished resistance of muscles to passive stretching. [EU] Id: The part of the personality structure which harbors the unconscious instinctive desires and strivings of the individual. [NIH] Immune system: The organs, cells, and molecules responsible for the recognition and disposal of foreign ("non-self") material which enters the body. [NIH] Immunodeficiency: The decreased ability of the body to fight infection and disease. [NIH] Immunoglobulin: A protein that acts as an antibody. [NIH] Immunology: The study of the body's immune system. [NIH] Impairment: In the context of health experience, an impairment is any loss or abnormality of psychological, physiological, or anatomical structure or function. [NIH] In situ: In the natural or normal place; confined to the site of origin without invasion of neighbouring tissues. [EU] In vitro: In the laboratory (outside the body). The opposite of in vivo (in the body). [NIH] In vivo: In the body. The opposite of in vitro (outside the body or in the laboratory). [NIH] Incision: A cut made in the body during surgery. [NIH] Indicative: That indicates; that points out more or less exactly; that reveals fairly clearly. [EU] Induction: The act or process of inducing or causing to occur, especially the production of a specific morphogenetic effect in the developing embryo through the influence of evocators or organizers, or the production of anaesthesia or unconsciousness by use of appropriate agents. [EU] Infancy: The period of complete dependency prior to the acquisition of competence in walking, talking, and self-feeding. [NIH]

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Infantile: Pertaining to an infant or to infancy. [EU] Infarction: A pathological process consisting of a sudden insufficient blood supply to an area, which results in necrosis of that area. It is usually caused by a thrombus, an embolus, or a vascular torsion. [NIH] Infection: 1. Invasion and multiplication of microorganisms in body tissues, which may be clinically unapparent or result in local cellular injury due to competitive metabolism, toxins, intracellular replication, or antigen-antibody response. The infection may remain localized, subclinical, and temporary if the body's defensive mechanisms are effective. A local infection may persist and spread by extension to become an acute, subacute, or chronic clinical infection or disease state. A local infection may also become systemic when the microorganisms gain access to the lymphatic or vascular system. 2. An infectious disease. [EU]

Inflammation: A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function. [NIH] Initiation: Mutation induced by a chemical reactive substance causing cell changes; being a step in a carcinogenic process. [NIH] Insight: The capacity to understand one's own motives, to be aware of one's own psychodynamics, to appreciate the meaning of symbolic behavior. [NIH] Intestinal: Having to do with the intestines. [NIH] Intestines: The section of the alimentary canal from the stomach to the anus. It includes the large intestine and small intestine. [NIH] Intracellular: Inside a cell. [NIH] Intracranial Pressure: Pressure within the cranial cavity. It is influenced by brain mass, the circulatory system, CSF dynamics, and skull rigidity. [NIH] Intrinsic: Situated entirely within or pertaining exclusively to a part. [EU] Involuntary: Reaction occurring without intention or volition. [NIH] Ions: An atom or group of atoms that have a positive or negative electric charge due to a gain (negative charge) or loss (positive charge) of one or more electrons. Atoms with a positive charge are known as cations; those with a negative charge are anions. [NIH] Ischemia: Deficiency of blood in a part, due to functional constriction or actual obstruction of a blood vessel. [EU] Isoenzyme: Different forms of an enzyme, usually occurring in different tissues. The isoenzymes of a particular enzyme catalyze the same reaction but they differ in some of their properties. [NIH] Joint: The point of contact between elements of an animal skeleton with the parts that surround and support it. [NIH] Kb: A measure of the length of DNA fragments, 1 Kb = 1000 base pairs. The largest DNA fragments are up to 50 kilobases long. [NIH] Kidney Disease: Any one of several chronic conditions that are caused by damage to the cells of the kidney. People who have had diabetes for a long time may have kidney damage. Also called nephropathy. [NIH] Kyphosis: A deformity of the spine characterized by extensive flexion. [NIH] Large Intestine: The part of the intestine that goes from the cecum to the rectum. The large intestine absorbs water from stool and changes it from a liquid to a solid form. The large intestine is 5 feet long and includes the appendix, cecum, colon, and rectum. Also called

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colon. [NIH] Laryngoscopy: Examination, therapy, or surgery of the interior of the larynx performed with a specially designed endoscope. [NIH] Larynx: An irregularly shaped, musculocartilaginous tubular structure, lined with mucous membrane, located at the top of the trachea and below the root of the tongue and the hyoid bone. It is the essential sphincter guarding the entrance into the trachea and functioning secondarily as the organ of voice. [NIH] Latent: Phoria which occurs at one distance or another and which usually has no troublesome effect. [NIH] Lens: The transparent, double convex (outward curve on both sides) structure suspended between the aqueous and vitreous; helps to focus light on the retina. [NIH] Lesion: An area of abnormal tissue change. [NIH] Lethargy: Abnormal drowsiness or stupor; a condition of indifference. [EU] Leukemia: Cancer of blood-forming tissue. [NIH] Library Services: Services offered to the library user. They include reference and circulation. [NIH]

Ligament: A band of fibrous tissue that connects bones or cartilages, serving to support and strengthen joints. [EU] Linkage: The tendency of two or more genes in the same chromosome to remain together from one generation to the next more frequently than expected according to the law of independent assortment. [NIH] Lipomatosis: A disorder consisting of the accumulation of abnormal localized, or tumor-like fat in the tissues. [NIH] Liposarcoma: A rare cancer of the fat cells. [NIH] Liver: A large, glandular organ located in the upper abdomen. The liver cleanses the blood and aids in digestion by secreting bile. [NIH] Liver cancer: A disease in which malignant (cancer) cells are found in the tissues of the liver. [NIH]

Lobe: A portion of an organ such as the liver, lung, breast, or brain. [NIH] Localization: The process of determining or marking the location or site of a lesion or disease. May also refer to the process of keeping a lesion or disease in a specific location or site. [NIH] Localized: Cancer which has not metastasized yet. [NIH] Loop: A wire usually of platinum bent at one end into a small loop (usually 4 mm inside diameter) and used in transferring microorganisms. [NIH] Lumbar: Pertaining to the loins, the part of the back between the thorax and the pelvis. [EU] Lymph: The almost colorless fluid that travels through the lymphatic system and carries cells that help fight infection and disease. [NIH] Lymph node: A rounded mass of lymphatic tissue that is surrounded by a capsule of connective tissue. Also known as a lymph gland. Lymph nodes are spread out along lymphatic vessels and contain many lymphocytes, which filter the lymphatic fluid (lymph). [NIH]

Lymphatic: The tissues and organs, including the bone marrow, spleen, thymus, and lymph nodes, that produce and store cells that fight infection and disease. [NIH] Lymphocyte: A white blood cell. Lymphocytes have a number of roles in the immune

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system, including the production of antibodies and other substances that fight infection and diseases. [NIH] Lymphoid: Referring to lymphocytes, a type of white blood cell. Also refers to tissue in which lymphocytes develop. [NIH] Lymphoma: A general term for various neoplastic diseases of the lymphoid tissue. [NIH] Lysine: An essential amino acid. It is often added to animal feed. [NIH] Malabsorption: Impaired intestinal absorption of nutrients. [EU] Malformation: A morphologic developmental process. [EU]

defect

resulting

from

an

intrinsically

abnormal

Malignancy: A cancerous tumor that can invade and destroy nearby tissue and spread to other parts of the body. [NIH] Malignant: Cancerous; a growth with a tendency to invade and destroy nearby tissue and spread to other parts of the body. [NIH] Malnutrition: A condition caused by not eating enough food or not eating a balanced diet. [NIH]

Mediate: Indirect; accomplished by the aid of an intervening medium. [EU] Mediator: An object or substance by which something is mediated, such as (1) a structure of the nervous system that transmits impulses eliciting a specific response; (2) a chemical substance (transmitter substance) that induces activity in an excitable tissue, such as nerve or muscle; or (3) a substance released from cells as the result of the interaction of antigen with antibody or by the action of antigen with a sensitized lymphocyte. [EU] MEDLINE: An online database of MEDLARS, the computerized bibliographic Medical Literature Analysis and Retrieval System of the National Library of Medicine. [NIH] Megakaryocytes: Very large bone marrow cells which release mature blood platelets. [NIH] Megaloblastic: A large abnormal red blood cell appearing in the blood in pernicious anaemia. [EU] Meiosis: A special method of cell division, occurring in maturation of the germ cells, by means of which each daughter nucleus receives half the number of chromosomes characteristic of the somatic cells of the species. [NIH] Melanin: The substance that gives the skin its color. [NIH] Melanocytes: Epidermal dendritic pigment cells which control long-term morphological color changes by alteration in their number or in the amount of pigment they produce and store in the pigment containing organelles called melanosomes. Melanophores are larger cells which do not exist in mammals. [NIH] Melanoma: A form of skin cancer that arises in melanocytes, the cells that produce pigment. Melanoma usually begins in a mole. [NIH] Melanosis: Disorders of increased melanin pigmentation that develop without preceding inflammatory disease. [NIH] Membrane: A very thin layer of tissue that covers a surface. [NIH] Mental deficiency: A condition of arrested or incomplete development of mind from inherent causes or induced by disease or injury. [NIH] Mental Disorders: Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function. [NIH] Mental Health: The state wherein the person is well adjusted. [NIH]

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Mental Retardation: Refers to sub-average general intellectual functioning which originated during the developmental period and is associated with impairment in adaptive behavior. [NIH]

Mesenchymal: Refers to cells that develop into connective tissue, blood vessels, and lymphatic tissue. [NIH] Metatarsal Bones: The five long bones of the metatarsus articulating with the tarsal bones proximally and the toes (phalanges) distally. [NIH] Metatarsus: The part of the foot between the tarsa and the toes. [NIH] MI: Myocardial infarction. Gross necrosis of the myocardium as a result of interruption of the blood supply to the area; it is almost always caused by atherosclerosis of the coronary arteries, upon which coronary thrombosis is usually superimposed. [NIH] Microorganism: An organism that can be seen only through a microscope. Microorganisms include bacteria, protozoa, algae, and fungi. Although viruses are not considered living organisms, they are sometimes classified as microorganisms. [NIH] Microscopy: The application of microscope magnification to the study of materials that cannot be properly seen by the unaided eye. [NIH] Midwifery: The practice of assisting women in childbirth. [NIH] Migration: The systematic movement of genes between populations of the same species, geographic race, or variety. [NIH] Mitosis: A method of indirect cell division by means of which the two daughter nuclei normally receive identical complements of the number of chromosomes of the somatic cells of the species. [NIH] Mitotic: Cell resulting from mitosis. [NIH] Modification: A change in an organism, or in a process in an organism, that is acquired from its own activity or environment. [NIH] Molecular: Of, pertaining to, or composed of molecules : a very small mass of matter. [EU] Molecule: A chemical made up of two or more atoms. The atoms in a molecule can be the same (an oxygen molecule has two oxygen atoms) or different (a water molecule has two hydrogen atoms and one oxygen atom). Biological molecules, such as proteins and DNA, can be made up of many thousands of atoms. [NIH] Morphogenesis: The development of the form of an organ, part of the body, or organism. [NIH]

Morphological: Relating to the configuration or the structure of live organs. [NIH] Mosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single zygote, as opposed to chimerism in which the different cell populations are derived from more than one zygote. [NIH] Muscle Fibers: Large single cells, either cylindrical or prismatic in shape, that form the basic unit of muscle tissue. They consist of a soft contractile substance enclosed in a tubular sheath. [NIH] Muscular Atrophy: Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation. [NIH] Muscular Dystrophies: A general term for a group of inherited disorders which are characterized by progressive degeneration of skeletal muscles. [NIH] Mutagenic: Inducing genetic mutation. [EU]

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Mutagens: Chemical agents that increase the rate of genetic mutation by interfering with the function of nucleic acids. A clastogen is a specific mutagen that causes breaks in chromosomes. [NIH] Myocardium: The muscle tissue of the heart composed of striated, involuntary muscle known as cardiac muscle. [NIH] Myotonic Dystrophy: A condition presenting muscle weakness and wasting which may be progressive. [NIH] Nail-Patella Syndrome: A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the patella and congenital nail dystrophy. It is a genetically determined autosomal dominant trait. [NIH] Natural selection: A part of the evolutionary process resulting in the survival and reproduction of the best adapted individuals. [NIH] NCI: National Cancer Institute. NCI, part of the National Institutes of Health of the United States Department of Health and Human Services, is the federal government's principal agency for cancer research. NCI conducts, coordinates, and funds cancer research, training, health information dissemination, and other programs with respect to the cause, diagnosis, prevention, and treatment of cancer. Access the NCI Web site at http://cancer.gov. [NIH] Necrosis: A pathological process caused by the progressive degradative action of enzymes that is generally associated with severe cellular trauma. It is characterized by mitochondrial swelling, nuclear flocculation, uncontrolled cell lysis, and ultimately cell death. [NIH] Need: A state of tension or dissatisfaction felt by an individual that impels him to action toward a goal he believes will satisfy the impulse. [NIH] Neonatal: Pertaining to the first four weeks after birth. [EU] Neonatal period: The first 4 weeks after birth. [NIH] Neoplasia: Abnormal and uncontrolled cell growth. [NIH] Neoplastic: Pertaining to or like a neoplasm (= any new and abnormal growth); pertaining to neoplasia (= the formation of a neoplasm). [EU] Nephropathy: Disease of the kidneys. [EU] Nerve: A cordlike structure of nervous tissue that connects parts of the nervous system with other tissues of the body and conveys nervous impulses to, or away from, these tissues. [NIH] Nervous System: The entire nerve apparatus composed of the brain, spinal cord, nerves and ganglia. [NIH] Neural: 1. Pertaining to a nerve or to the nerves. 2. Situated in the region of the spinal axis, as the neutral arch. [EU] Neural tube defects: These defects include problems stemming from fetal development of the spinal cord, spine, brain, and skull, and include birth defects such as spina bifida, anencephaly, and encephalocele. Neural tube defects occur early in pregnancy at about 4 to 6 weeks, usually before a woman knows she is pregnant. Many babies with neural tube defects have difficulty walking and with bladder and bowel control. [NIH] Neuralgia: Intense or aching pain that occurs along the course or distribution of a peripheral or cranial nerve. [NIH] Neurologic: Having to do with nerves or the nervous system. [NIH] Neurology: A medical specialty concerned with the study of the structures, functions, and diseases of the nervous system. [NIH] Nuclear: A test of the structure, blood flow, and function of the kidneys. The doctor injects a

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mildly radioactive solution into an arm vein and uses x-rays to monitor its progress through the kidneys. [NIH] Nuclear Family: A family composed of spouses and their children. [NIH] Nucleus: A body of specialized protoplasm found in nearly all cells and containing the chromosomes. [NIH] Occupational Therapy: The field concerned with utilizing craft or work activities in the rehabilitation of patients. Occupational therapy can also refer to the activities themselves. [NIH]

Oncogene: A gene that normally directs cell growth. If altered, an oncogene can promote or allow the uncontrolled growth of cancer. Alterations can be inherited or caused by an environmental exposure to carcinogens. [NIH] Opacity: Degree of density (area most dense taken for reading). [NIH] Opsin: A protein formed, together with retinene, by the chemical breakdown of metarhodopsin. [NIH] Optic Disk: The portion of the optic nerve seen in the fundus with the ophthalmoscope. It is formed by the meeting of all the retinal ganglion cell axons as they enter the optic nerve. [NIH]

Organ Culture: The growth in aseptic culture of plant organs such as roots or shoots, beginning with organ primordia or segments and maintaining the characteristics of the organ. [NIH] Osseointegration: The growth action of bone tissue, as it assimilates surgically implanted devices or prostheses to be used as either replacement parts (e.g., hip) or as anchors (e.g., endosseous dental implants). [NIH] Ossification: The formation of bone or of a bony substance; the conversion of fibrous tissue or of cartilage into bone or a bony substance. [EU] Osteoarthritis: A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans. [NIH] Osteoblasts: Bone-forming cells which secrete an extracellular matrix. Hydroxyapatite crystals are then deposited into the matrix to form bone. [NIH] Osteochondrodysplasias: Abnormal development of cartilage and bone. [NIH] Osteogenesis: The histogenesis of bone including ossification. It occurs continuously but particularly in the embryo and child and during fracture repair. [NIH] Osteogenesis Imperfecta: A collagen disorder resulting from defective biosynthesis of type I collagen and characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. There are four major types, I-IV. [NIH] Ovum: A female germ cell extruded from the ovary at ovulation. [NIH] Palsy: Disease of the peripheral nervous system occurring usually after many years of increased lead absorption. [NIH] Pancreas: A mixed exocrine and endocrine gland situated transversely across the posterior abdominal wall in the epigastric and hypochondriac regions. The endocrine portion is comprised of the Islets of Langerhans, while the exocrine portion is a compound acinar gland that secretes digestive enzymes. [NIH] Pancreatic: Having to do with the pancreas. [NIH]

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Pancreatic cancer: Cancer of the pancreas, a salivary gland of the abdomen. [NIH] Papilledema: Swelling around the optic disk. [NIH] Paroxysmal: Recurring in paroxysms (= spasms or seizures). [EU] Particle: A tiny mass of material. [EU] Patella: The flat, triangular bone situated at the anterior part of the knee. [NIH] Paternal Age: Age of the father. [NIH] Pathogenesis: The cellular events and reactions that occur in the development of disease. [NIH]

Pathologic: 1. Indicative of or caused by a morbid condition. 2. Pertaining to pathology (= branch of medicine that treats the essential nature of the disease, especially the structural and functional changes in tissues and organs of the body caused by the disease). [EU] Pathologic Processes: The abnormal mechanisms and forms involved in the dysfunctions of tissues and organs. [NIH] Pathophysiology: Altered functions in an individual or an organ due to disease. [NIH] Patient Selection: Criteria and standards used for the determination of the appropriateness of the inclusion of patients with specific conditions in proposed treatment plans and the criteria used for the inclusion of subjects in various clinical trials and other research protocols. [NIH] Pelvic: Pertaining to the pelvis. [EU] Peptide: Any compound consisting of two or more amino acids, the building blocks of proteins. Peptides are combined to make proteins. [NIH] Perforation: 1. The act of boring or piercing through a part. 2. A hole made through a part or substance. [EU] Perinatal: Pertaining to or occurring in the period shortly before and after birth; variously defined as beginning with completion of the twentieth to twenty-eighth week of gestation and ending 7 to 28 days after birth. [EU] Peripheral Nervous System: The nervous system outside of the brain and spinal cord. The peripheral nervous system has autonomic and somatic divisions. The autonomic nervous system includes the enteric, parasympathetic, and sympathetic subdivisions. The somatic nervous system includes the cranial and spinal nerves and their ganglia and the peripheral sensory receptors. [NIH] Pharmacologic: Pertaining to pharmacology or to the properties and reactions of drugs. [EU] Phenotype: The outward appearance of the individual. It is the product of interactions between genes and between the genotype and the environment. This includes the killer phenotype, characteristic of yeasts. [NIH] Phenylalanine: An aromatic amino acid that is essential in the animal diet. It is a precursor of melanin, dopamine, noradrenalin, and thyroxine. [NIH] Phospholipases: A class of enzymes that catalyze the hydrolysis of phosphoglycerides or glycerophosphatidates. EC 3.1.-. [NIH] Phosphorus: A non-metallic element that is found in the blood, muscles, nevers, bones, and teeth, and is a component of adenosine triphosphate (ATP; the primary energy source for the body's cells.) [NIH] Physical Examination: Systematic and thorough inspection of the patient for physical signs of disease or abnormality. [NIH] Physical Therapy: The restoration of function and the prevention of disability following

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disease or injury with the use of light, heat, cold, water, electricity, ultrasound, and exercise. [NIH]

Physiologic: Having to do with the functions of the body. When used in the phrase "physiologic age," it refers to an age assigned by general health, as opposed to calendar age. [NIH]

Physiology: The science that deals with the life processes and functions of organismus, their cells, tissues, and organs. [NIH] Pigment: A substance that gives color to tissue. Pigments are responsible for the color of skin, eyes, and hair. [NIH] Pituitary Gland: A small, unpaired gland situated in the sella turcica tissue. It is connected to the hypothalamus by a short stalk. [NIH] Plants: Multicellular, eukaryotic life forms of the kingdom Plantae. They are characterized by a mainly photosynthetic mode of nutrition; essentially unlimited growth at localized regions of cell divisions (meristems); cellulose within cells providing rigidity; the absence of organs of locomotion; absense of nervous and sensory systems; and an alteration of haploid and diploid generations. [NIH] Platelet Activation: A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug. [NIH] Platinum: Platinum. A heavy, soft, whitish metal, resembling tin, atomic number 78, atomic weight 195.09, symbol Pt. (From Dorland, 28th ed) It is used in manufacturing equipment for laboratory and industrial use. It occurs as a black powder (platinum black) and as a spongy substance (spongy platinum) and may have been known in Pliny's time as "alutiae". [NIH] Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [NIH] Polycystic: An inherited disorder characterized by many grape-like clusters of fluid-filled cysts that make both kidneys larger over time. These cysts take over and destroy working kidney tissue. PKD may cause chronic renal failure and end-stage renal disease. [NIH] Polymerase: An enzyme which catalyses the synthesis of DNA using a single DNA strand as a template. The polymerase copies the template in the 5'-3'direction provided that sufficient quantities of free nucleotides, dATP and dTTP are present. [NIH] Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. [NIH] Polymorphic: Occurring in several or many forms; appearing in different forms at different stages of development. [EU] Polypeptide: A peptide which on hydrolysis yields more than two amino acids; called tripeptides, tetrapeptides, etc. according to the number of amino acids contained. [EU] Polysaccharide: A type of carbohydrate. It contains sugar molecules that are linked together chemically. [NIH] Posterior: Situated in back of, or in the back part of, or affecting the back or dorsal surface of

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the body. In lower animals, it refers to the caudal end of the body. [EU] Postnatal: Occurring after birth, with reference to the newborn. [EU] Postsynaptic: Nerve potential generated by an inhibitory hyperpolarizing stimulation. [NIH] Potentiation: An overall effect of two drugs taken together which is greater than the sum of the effects of each drug taken alone. [NIH] Practice Guidelines: Directions or principles presenting current or future rules of policy for the health care practitioner to assist him in patient care decisions regarding diagnosis, therapy, or related clinical circumstances. The guidelines may be developed by government agencies at any level, institutions, professional societies, governing boards, or by the convening of expert panels. The guidelines form a basis for the evaluation of all aspects of health care and delivery. [NIH] Precursor: Something that precedes. In biological processes, a substance from which another, usually more active or mature substance is formed. In clinical medicine, a sign or symptom that heralds another. [EU] Prenatal: Existing or occurring before birth, with reference to the fetus. [EU] Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation embryo, fetus, or pregnant female before birth. [NIH] Prevalence: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from incidence, which refers to the number of new cases in the population at a given time. [NIH] Procollagen: A biosynthetic precursor of collagen containing additional amino acid sequences at the amino-terminal ends of the three polypeptide chains. Protocollagen, a precursor of procollagen consists of procollagen peptide chains in which proline and lysine have not yet been hydroxylated. [NIH] Progression: Increase in the size of a tumor or spread of cancer in the body. [NIH] Progressive: Advancing; going forward; going from bad to worse; increasing in scope or severity. [EU] Proline: A non-essential amino acid that is synthesized from glutamic acid. It is an essential component of collagen and is important for proper functioning of joints and tendons. [NIH] Prostate: A gland in males that surrounds the neck of the bladder and the urethra. It secretes a substance that liquifies coagulated semen. It is situated in the pelvic cavity behind the lower part of the pubic symphysis, above the deep layer of the triangular ligament, and rests upon the rectum. [NIH] Protein C: A vitamin-K dependent zymogen present in the blood, which, upon activation by thrombin and thrombomodulin exerts anticoagulant properties by inactivating factors Va and VIIIa at the rate-limiting steps of thrombin formation. [NIH] Protein S: The vitamin K-dependent cofactor of activated protein C. Together with protein C, it inhibits the action of factors VIIIa and Va. A deficiency in protein S can lead to recurrent venous and arterial thrombosis. [NIH] Proteins: Polymers of amino acids linked by peptide bonds. The specific sequence of amino acids determines the shape and function of the protein. [NIH] Proteoglycan: A molecule that contains both protein and glycosaminoglycans, which are a type of polysaccharide. Proteoglycans are found in cartilage and other connective tissues. [NIH]

Proximal: Nearest; closer to any point of reference; opposed to distal. [EU] Public Health: Branch of medicine concerned with the prevention and control of disease and

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disability, and the promotion of physical and mental health of the population on the international, national, state, or municipal level. [NIH] Public Policy: A course or method of action selected, usually by a government, from among alternatives to guide and determine present and future decisions. [NIH] Publishing: "The business or profession of the commercial production and issuance of literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing. [NIH]

Pulmonary: Relating to the lungs. [NIH] Pulmonary hypertension: Abnormally high blood pressure in the arteries of the lungs. [NIH] Quality of Life: A generic concept reflecting concern with the modification and enhancement of life attributes, e.g., physical, political, moral and social environment. [NIH] Race: A population within a species which exhibits general similarities within itself, but is both discontinuous and distinct from other populations of that species, though not sufficiently so as to achieve the status of a taxon. [NIH] Radiological: Pertaining to radiodiagnostic and radiotherapeutic procedures, and interventional radiology or other planning and guiding medical radiology. [NIH] Radiology: A specialty concerned with the use of x-ray and other forms of radiant energy in the diagnosis and treatment of disease. [NIH] Reactive Oxygen Species: Reactive intermediate oxygen species including both radicals and non-radicals. These substances are constantly formed in the human body and have been shown to kill bacteria and inactivate proteins, and have been implicated in a number of diseases. Scientific data exist that link the reactive oxygen species produced by inflammatory phagocytes to cancer development. [NIH] Receptor: A molecule inside or on the surface of a cell that binds to a specific substance and causes a specific physiologic effect in the cell. [NIH] Recombinant: A cell or an individual with a new combination of genes not found together in either parent; usually applied to linked genes. [EU] Recombination: The formation of new combinations of genes as a result of segregation in crosses between genetically different parents; also the rearrangement of linked genes due to crossing-over. [NIH] Rectum: The last 8 to 10 inches of the large intestine. [NIH] Recurrence: The return of a sign, symptom, or disease after a remission. [NIH] Red Nucleus: A pinkish-yellow portion of the midbrain situated in the rostral mesencephalic tegmentum. It receives a large projection from the contralateral half of the cerebellum via the superior cerebellar peduncle and a projection from the ipsilateral motor cortex. [NIH] Refer: To send or direct for treatment, aid, information, de decision. [NIH] Refraction: A test to determine the best eyeglasses or contact lenses to correct a refractive error (myopia, hyperopia, or astigmatism). [NIH] Regeneration: The natural renewal of a structure, as of a lost tissue or part. [EU] Remission: A decrease in or disappearance of signs and symptoms of cancer. In partial remission, some, but not all, signs and symptoms of cancer have disappeared. In complete remission, all signs and symptoms of cancer have disappeared, although there still may be cancer in the body. [NIH]

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Renal cysts: Abnormal fluid-filled sacs in the kidney that range in size from microscopic to much larger. Many simple cysts are harmless, while other types can seriously damage the kidneys. [NIH] Renal Osteodystrophy: Decalcification of bone due to hyperparathyroidism secondary to chronic kidney disease. [NIH] Respiration: The act of breathing with the lungs, consisting of inspiration, or the taking into the lungs of the ambient air, and of expiration, or the expelling of the modified air which contains more carbon dioxide than the air taken in (Blakiston's Gould Medical Dictionary, 4th ed.). This does not include tissue respiration (= oxygen consumption) or cell respiration (= cell respiration). [NIH] Respiratory failure: Inability of the lungs to conduct gas exchange. [NIH] Restoration: Broad term applied to any inlay, crown, bridge or complete denture which restores or replaces loss of teeth or oral tissues. [NIH] Retina: The ten-layered nervous tissue membrane of the eye. It is continuous with the optic nerve and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the choroid and the inner surface with the vitreous body. The outer-most layer is pigmented, whereas the inner nine layers are transparent. [NIH] Retinal: 1. Pertaining to the retina. 2. The aldehyde of retinol, derived by the oxidative enzymatic splitting of absorbed dietary carotene, and having vitamin A activity. In the retina, retinal combines with opsins to form visual pigments. One isomer, 11-cis retinal combines with opsin in the rods (scotopsin) to form rhodopsin, or visual purple. Another, all-trans retinal (trans-r.); visual yellow; xanthopsin) results from the bleaching of rhodopsin by light, in which the 11-cis form is converted to the all-trans form. Retinal also combines with opsins in the cones (photopsins) to form the three pigments responsible for colour vision. Called also retinal, and retinene1. [EU] Retinoblastoma: An eye cancer that most often occurs in children younger than 5 years. It occurs in hereditary and nonhereditary (sporadic) forms. [NIH] Retinol: Vitamin A. It is essential for proper vision and healthy skin and mucous membranes. Retinol is being studied for cancer prevention; it belongs to the family of drugs called retinoids. [NIH] Rigidity: Stiffness or inflexibility, chiefly that which is abnormal or morbid; rigor. [EU] Rod: A reception for vision, located in the retina. [NIH] Salivary: The duct that convey saliva to the mouth. [NIH] Salivary glands: Glands in the mouth that produce saliva. [NIH] Sclerae: A circular furrow between the sclerocorneal junction and the iris. [NIH] Sclerosis: A pathological process consisting of hardening or fibrosis of an anatomical structure, often a vessel or a nerve. [NIH] Screening: Checking for disease when there are no symptoms. [NIH] Secretion: 1. The process of elaborating a specific product as a result of the activity of a gland; this activity may range from separating a specific substance of the blood to the elaboration of a new chemical substance. 2. Any substance produced by secretion. [EU] Segregation: The separation in meiotic cell division of homologous chromosome pairs and their contained allelomorphic gene pairs. [NIH] Seizures: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to

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as epilepsy or "seizure disorder." [NIH] Self-Help Groups: Organizations which provide an environment encouraging social interactions through group activities or individual relationships especially for the purpose of rehabilitating or supporting patients, individuals with common health problems, or the elderly. They include therapeutic social clubs. [NIH] Semen: The thick, yellowish-white, viscid fluid secretion of male reproductive organs discharged upon ejaculation. In addition to reproductive organ secretions, it contains spermatozoa and their nutrient plasma. [NIH] Senescence: The bodily and mental state associated with advancing age. [NIH] Sensibility: The ability to receive, feel and appreciate sensations and impressions; the quality of being sensitive; the extend to which a method gives results that are free from false negatives. [NIH] Sequencing: The determination of the order of nucleotides in a DNA or RNA chain. [NIH] Serum: The clear liquid part of the blood that remains after blood cells and clotting proteins have been removed. [NIH] Sex Determination: The biological characteristics which distinguish human beings as female or male. [NIH] Signal Transduction: The intercellular or intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GABA-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptormediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway. [NIH] Skeletal: Having to do with the skeleton (boney part of the body). [NIH] Skeleton: The framework that supports the soft tissues of vertebrate animals and protects many of their internal organs. The skeletons of vertebrates are made of bone and/or cartilage. [NIH] Skull: The skeleton of the head including the bones of the face and the bones enclosing the brain. [NIH] Sleep apnea: A serious, potentially life-threatening breathing disorder characterized by repeated cessation of breathing due to either collapse of the upper airway during sleep or absence of respiratory effort. [NIH] Small intestine: The part of the digestive tract that is located between the stomach and the large intestine. [NIH] Social Environment: The aggregate of social and cultural institutions, forms, patterns, and processes that influence the life of an individual or community. [NIH] Social Support: Support systems that provide assistance and encouragement to individuals with physical or emotional disabilities in order that they may better cope. Informal social support is usually provided by friends, relatives, or peers, while formal assistance is provided by churches, groups, etc. [NIH]

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Soft tissue: Refers to muscle, fat, fibrous tissue, blood vessels, or other supporting tissue of the body. [NIH] Solid tumor: Cancer of body tissues other than blood, bone marrow, or the lymphatic system. [NIH] Soma: The body as distinct from the mind; all the body tissue except the germ cells; all the axial body. [NIH] Somatic: 1. Pertaining to or characteristic of the soma or body. 2. Pertaining to the body wall in contrast to the viscera. [EU] Somatic cells: All the body cells except the reproductive (germ) cells. [NIH] Specialist: In medicine, one who concentrates on 1 special branch of medical science. [NIH] Species: A taxonomic category subordinate to a genus (or subgenus) and superior to a subspecies or variety, composed of individuals possessing common characters distinguishing them from other categories of individuals of the same taxonomic level. In taxonomic nomenclature, species are designated by the genus name followed by a Latin or Latinized adjective or noun. [EU] Specificity: Degree of selectivity shown by an antibody with respect to the number and types of antigens with which the antibody combines, as well as with respect to the rates and the extents of these reactions. [NIH] Spectrum: A charted band of wavelengths of electromagnetic vibrations obtained by refraction and diffraction. By extension, a measurable range of activity, such as the range of bacteria affected by an antibiotic (antibacterial s.) or the complete range of manifestations of a disease. [EU] Speech pathologist: A specialist who evaluates and treats people with communication and swallowing problems. Also called a speech therapist. [NIH] Sperm: The fecundating fluid of the male. [NIH] Spina bifida: A defect in development of the vertebral column in which there is a central deficiency of the vertebral lamina. [NIH] Spinal cord: The main trunk or bundle of nerves running down the spine through holes in the spinal bone (the vertebrae) from the brain to the level of the lower back. [NIH] Spinal Stenosis: Narrowing of the spinal canal. [NIH] Sporadic: Neither endemic nor epidemic; occurring occasionally in a random or isolated manner. [EU] Stem Cells: Relatively undifferentiated cells of the same lineage (family type) that retain the ability to divide and cycle throughout postnatal life to provide cells that can become specialized and take the place of those that die or are lost. [NIH] Stimulus: That which can elicit or evoke action (response) in a muscle, nerve, gland or other excitable issue, or cause an augmenting action upon any function or metabolic process. [NIH] Stomach: An organ of digestion situated in the left upper quadrant of the abdomen between the termination of the esophagus and the beginning of the duodenum. [NIH] Strand: DNA normally exists in the bacterial nucleus in a helix, in which two strands are coiled together. [NIH] Stress: Forcibly exerted influence; pressure. Any condition or situation that causes strain or tension. Stress may be either physical or psychologic, or both. [NIH] Stroke: Sudden loss of function of part of the brain because of loss of blood flow. Stroke may be caused by a clot (thrombosis) or rupture (hemorrhage) of a blood vessel to the brain. [NIH]

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Substance P: An eleven-amino acid neurotransmitter that appears in both the central and peripheral nervous systems. It is involved in transmission of pain, causes rapid contractions of the gastrointestinal smooth muscle, and modulates inflammatory and immune responses. [NIH]

Support group: A group of people with similar disease who meet to discuss how better to cope with their cancer and treatment. [NIH] Symphysis: A secondary cartilaginous joint. [NIH] Synaptic: Pertaining to or affecting a synapse (= site of functional apposition between neurons, at which an impulse is transmitted from one neuron to another by electrical or chemical means); pertaining to synapsis (= pairing off in point-for-point association of homologous chromosomes from the male and female pronuclei during the early prophase of meiosis). [EU] Systolic: Indicating the maximum arterial pressure during contraction of the left ventricle of the heart. [EU] Tarsal Bones: The seven bones which form the tarsus - namely, calcaneus, talus, cuboid, navicular, and first, second and third cuneiforms. The tarsus is a skeletal part of the foot. [NIH]

Telangiectasia: The permanent enlargement of blood vessels, causing redness in the skin or mucous membranes. [NIH] Temporal: One of the two irregular bones forming part of the lateral surfaces and base of the skull, and containing the organs of hearing. [NIH] Thalamic: Cell that reaches the lateral nucleus of amygdala. [NIH] Thalamic Diseases: Disorders of the centrally located thalamus, which integrates a wide range of cortical and subcortical information. Manifestations include sensory loss, movement disorders; ataxia, pain syndromes, visual disorders, a variety of neuropsychological conditions, and coma. Relatively common etiologies include cerebrovascular disorders; craniocerebral trauma; brain neoplasms; brain hypoxia; intracranial hemorrhages; and infectious processes. [NIH] Thanatophoric Dysplasia: A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or in the neonatal period. [NIH] Thermal: Pertaining to or characterized by heat. [EU] Thigh: A leg; in anatomy, any elongated process or part of a structure more or less comparable to a leg. [NIH] Thorax: A part of the trunk between the neck and the abdomen; the chest. [NIH] Threshold: For a specified sensory modality (e. g. light, sound, vibration), the lowest level (absolute threshold) or smallest difference (difference threshold, difference limen) or intensity of the stimulus discernible in prescribed conditions of stimulation. [NIH] Thrombin: An enzyme formed from prothrombin that converts fibrinogen to fibrin. (Dorland, 27th ed) EC 3.4.21.5. [NIH] Thrombocytopenia: A decrease in the number of blood platelets. [NIH] Thrombomodulin: A cell surface glycoprotein of endothelial cells that binds thrombin and serves as a cofactor in the activation of protein C and its regulation of blood coagulation. [NIH]

Thrombopoietin: A humoral factor that controls blood platelet production through stimulation of megakaryocyte populations. Bone marrow megakaryocytes increase in both size and number in response to exposure to thrombopoietin. [NIH]

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Achondroplasia

Thrombosis: The formation or presence of a blood clot inside a blood vessel. [NIH] Thyroid: A gland located near the windpipe (trachea) that produces thyroid hormone, which helps regulate growth and metabolism. [NIH] Thyrotropin: A peptide hormone secreted by the anterior pituitary. It promotes the growth of the thyroid gland and stimulates the synthesis of thyroid hormones and the release of thyroxine by the thyroid gland. [NIH] Tissue: A group or layer of cells that are alike in type and work together to perform a specific function. [NIH] Tissue Culture: Maintaining or growing of tissue, organ primordia, or the whole or part of an organ in vitro so as to preserve its architecture and/or function (Dorland, 28th ed). Tissue culture includes both organ culture and cell culture. [NIH] Tomography: Imaging methods that result in sharp images of objects located on a chosen plane and blurred images located above or below the plane. [NIH] Toxic: Having to do with poison or something harmful to the body. Toxic substances usually cause unwanted side effects. [NIH] Toxicology: The science concerned with the detection, chemical composition, and pharmacologic action of toxic substances or poisons and the treatment and prevention of toxic manifestations. [NIH] Transduction: The transfer of genes from one cell to another by means of a viral (in the case of bacteria, a bacteriophage) vector or a vector which is similar to a virus particle (pseudovirion). [NIH] Transfection: The uptake of naked or purified DNA into cells, usually eukaryotic. It is analogous to bacterial transformation. [NIH] Transferases: Transferases are enzymes transferring a group, for example, the methyl group or a glycosyl group, from one compound (generally regarded as donor) to another compound (generally regarded as acceptor). The classification is based on the scheme "donor:acceptor group transferase". (Enzyme Nomenclature, 1992) EC 2. [NIH] Translocation: The movement of material in solution inside the body of the plant. [NIH] Transmitter: A chemical substance which effects the passage of nerve impulses from one cell to the other at the synapse. [NIH] Transplantation: Transference of a tissue or organ, alive or dead, within an individual, between individuals of the same species, or between individuals of different species. [NIH] Tryptophan: An essential amino acid that is necessary for normal growth in infants and for nitrogen balance in adults. It is a precursor serotonin and niacin. [NIH] Tuberous Sclerosis: A rare congenital disease in which the essential pathology is the appearance of multiple tumors in the cerebrum and in other organs, such as the heart or kidneys. [NIH] Tyrosine: A non-essential amino acid. In animals it is synthesized from phenylalanine. It is also the precursor of epinephrine, thyroid hormones, and melanin. [NIH] Umbilical Cord: The flexible structure, giving passage to the umbilical arteries and vein, which connects the embryo or fetus to the placenta. [NIH] Umbilicus: The pit in the center of the abdominal wall marking the point where the umbilical cord entered in the fetus. [NIH] Unconscious: Experience which was once conscious, but was subsequently rejected, as the "personal unconscious". [NIH]

Dictionary

135

Urethra: The tube through which urine leaves the body. It empties urine from the bladder. [NIH]

Urine: Fluid containing water and waste products. Urine is made by the kidneys, stored in the bladder, and leaves the body through the urethra. [NIH] Uterus: The small, hollow, pear-shaped organ in a woman's pelvis. This is the organ in which a fetus develops. Also called the womb. [NIH] Vagina: The muscular canal extending from the uterus to the exterior of the body. Also called the birth canal. [NIH] VE: The total volume of gas either inspired or expired in one minute. [NIH] Vector: Plasmid or other self-replicating DNA molecule that transfers DNA between cells in nature or in recombinant DNA technology. [NIH] Veins: The vessels carrying blood toward the heart. [NIH] Venous: Of or pertaining to the veins. [EU] Ventral: 1. Pertaining to the belly or to any venter. 2. Denoting a position more toward the belly surface than some other object of reference; same as anterior in human anatomy. [EU] Veterinary Medicine: The medical science concerned with the prevention, diagnosis, and treatment of diseases in animals. [NIH] Viral: Pertaining to, caused by, or of the nature of virus. [EU] Virus: Submicroscopic organism that causes infectious disease. In cancer therapy, some viruses may be made into vaccines that help the body build an immune response to, and kill, tumor cells. [NIH] Viscera: Any of the large interior organs in any one of the three great cavities of the body, especially in the abdomen. [NIH] Vitro: Descriptive of an event or enzyme reaction under experimental investigation occurring outside a living organism. Parts of an organism or microorganism are used together with artificial substrates and/or conditions. [NIH] Vivo: Outside of or removed from the body of a living organism. [NIH] War: Hostile conflict between organized groups of people. [NIH] Wound Healing: Restoration of integrity to traumatized tissue. [NIH] Xenograft: The cells of one species transplanted to another species. [NIH] X-ray: High-energy radiation used in low doses to diagnose diseases and in high doses to treat cancer. [NIH] Yeasts: A general term for single-celled rounded fungi that reproduce by budding. Brewers' and bakers' yeasts are Saccharomyces cerevisiae; therapeutic dried yeast is dried yeast. [NIH] Zygote: The fertilized ovum. [NIH] Zymogen: Inactive form of an enzyme which can then be converted to the active form, usually by excision of a polypeptide, e. g. trypsinogen is the zymogen of trypsin. [NIH]

137

INDEX A Abdominal, 105, 109, 125, 134 Aberrant, 17, 105 Acanthosis Nigricans, 5, 48, 51, 52, 105 Adaptability, 105, 109 Aetiology, 11, 105 Affinity, 5, 105 Airway, 49, 105, 131 Airway Obstruction, 49, 105 Algorithms, 105, 108 Alkaline, 105, 109 Alleles, 10, 105, 118 Alpha-fetoprotein, 76, 105, 116 Alternative medicine, 105 Amino Acid Sequence, 105, 115, 128 Amino Acids, 105, 106, 126, 127, 128 Amino-terminal, 106, 128 Amnion, 77, 106 Amniotic Fluid, 106 Anaesthesia, 16, 25, 33, 106, 119 Analogous, 106, 118, 134 Anatomical, 106, 119, 130 Anemia, 87, 106, 116 Anesthesia, 105, 106 Angiogenesis, 9, 106 Animal model, 72, 106 Annealing, 106, 127 Anomalies, 23, 106 Antibacterial, 106, 132 Antibiotic, 106, 132 Antibody, 105, 106, 107, 111, 117, 118, 119, 120, 122, 132 Anticoagulant, 106, 128 Antigen, 105, 106, 107, 111, 118, 120, 122 Anus, 107, 108, 120 Apnea, 22, 107 Apoptosis, 9, 17, 107 Aqueous, 107, 108, 113, 121 Arterial, 107, 119, 128, 133 Arteries, 107, 108, 112, 123, 129, 134 Articular, 8, 107, 125 Aseptic, 107, 125 Ataxia, 87, 107, 133 Atresia, 20, 107 Atrophy, 86, 87, 107 Auditory, 107, 115 B Bacteria, 106, 107, 118, 123, 129, 132, 134

Bacteriophage, 107, 134 Basal Ganglia, 107 Basal Ganglia Diseases, 107 Base, 108, 113, 116, 120, 127, 133 Base Sequence, 108, 116 Basement Membrane, 108, 115 Benign, 27, 108, 114 Bilateral, 17, 27, 108 Biochemical, 4, 10, 31, 58, 105, 108, 117, 125 Biogenesis, 10, 108 Biosynthesis, 108, 125 Biotechnology, 12, 77, 83, 85, 86, 87, 88, 90, 91, 108 Bladder, 55, 108, 124, 128, 135 Blood Coagulation, 108, 109, 133 Blood Platelets, 108, 122, 133 Blood pressure, 108, 119, 129 Blood vessel, 106, 108, 110, 114, 120, 123, 132, 133, 134 Bone Development, 11, 108 Bowel, 108, 113, 124 Bowel Movement, 108, 113 Brachial, 108, 118 Branch, 99, 109, 126, 128, 132 C Caesarean section, 25, 109 Calcium, 39, 109, 111, 131 Callus, 51, 109 Calmodulin, 39, 47, 109 Carbohydrate, 34, 109, 117, 127 Carcinogenic, 109, 120 Carcinogens, 109, 125 Cardiopulmonary, 78, 109 Carotene, 109, 130 Case report, 18, 19, 27, 33, 45, 50, 54, 55, 109 Cataracts, 10, 109 Cell Cycle, 7, 9, 109 Cell Death, 9, 17, 48, 107, 109, 124 Cell Differentiation, 6, 109, 131 Cell Division, 86, 107, 109, 110, 122, 123, 127, 130 Cell proliferation, 6, 110, 131 Central Nervous System, 110, 115, 116, 117 Cerebellar, 107, 110, 129 Cerebral, 47, 107, 110, 114, 115

138

Achondroplasia

Cerebrum, 110, 134 Cervical, 13, 28, 54, 55, 110 Cervix, 110, 116 Chest wall, 20, 50, 110 Chondrogenesis, 8, 29, 110 Chondroitin sulfate, 58, 110 Chromatin, 107, 110 Chromosomal, 4, 41, 110, 123 Chromosome, 4, 28, 37, 40, 51, 52, 72, 110, 121, 130 Chronic, 18, 24, 76, 86, 110, 114, 120, 127, 130 Chronic renal, 110, 127 Circulatory system, 110, 120 CIS, 110, 130 Clear cell carcinoma, 110, 113 Clinical trial, 3, 67, 68, 83, 110, 126 Cloning, 108, 110 Cofactor, 111, 128, 133 Collagen, 8, 11, 25, 39, 108, 111, 116, 125, 128 Collapse, 111, 131 Complement, 111 Complementary and alternative medicine, 61, 63, 111 Complementary medicine, 61, 111 Computational Biology, 83, 85, 111 Computed tomography, 37, 111, 112 Computerized axial tomography, 112 Computerized tomography, 112 Conception, 112, 116 Cones, 112, 130 Congenita, 17, 23, 29, 35, 37, 38, 43, 112 Connective Tissue, 5, 111, 112, 116, 121, 123, 128 Connective Tissue Cells, 112 Contraindications, ii, 112 Coronary, 112, 123 Coronary Thrombosis, 112, 123 Cortex, 107, 112, 115, 129 Cranial, 5, 112, 120, 124, 126 Creatine, 36, 112 Creatine Kinase, 36, 112 Creatinine, 112 Crossing-over, 112, 129 Curative, 72, 112 Cyclic, 109, 113 Cytoplasm, 107, 113, 117 Cytotoxic, 113, 131 D Databases, Bibliographic, 83, 113 De novo, 54, 113

Decompression, 19, 22, 26, 27, 45, 113 Decompression Sickness, 113 Degenerative, 113, 125 Deletion, 107, 113 Denaturation, 113, 127 Density, 24, 113, 125 Depolarization, 113, 131 DES, 58, 113 Diagnostic procedure, 71, 113 Diastolic, 113, 119 Digestive system, 69, 113 Diploid, 39, 113, 127 Direct, iii, 6, 8, 33, 113, 129 Dissociation, 105, 113 Distal, 37, 114, 128 Dorsal, 5, 114, 127 Dorsum, 114 Dwarfism, 6, 7, 9, 10, 23, 24, 26, 40, 61, 62, 67, 72, 78, 90, 91, 114, 133 Dysplasia, 4, 8, 9, 11, 17, 18, 23, 29, 33, 35, 37, 38, 39, 42, 43, 44, 46, 47, 48, 54, 86, 87, 91, 114 Dystrophy, 21, 76, 86, 114, 124 E Elastin, 111, 114 Embryo, 5, 106, 108, 109, 114, 116, 117, 119, 125, 128, 134 Encephalocele, 114, 124 Enchondromatosis, 14, 114 Endemic, 114, 132 Endoscope, 114, 121 Endothelial cell, 114, 116, 133 End-stage renal, 110, 114, 127 Environmental Exposure, 114, 125 Environmental Health, 82, 84, 114 Enzymatic, 109, 111, 114, 127, 130 Enzyme, 114, 120, 127, 131, 133, 134, 135 Epidemic, 115, 132 Epinephrine, 115, 134 Epiphyseal, 4, 6, 11, 17, 23, 33, 39, 42, 43, 44, 46, 47, 115 Epiphyses, 4, 115 Erythrocytes, 106, 115 Esophagus, 107, 113, 115, 132 Essential Tremor, 86, 115 Evoked Potentials, 13, 54, 115 Exon, 39, 42, 115 Extracellular, 4, 5, 8, 11, 112, 115, 116, 125 Extracellular Matrix, 4, 8, 11, 112, 115, 116, 125 Extracellular Space, 115

Index

F Family Planning, 83, 115 Family Relations, 67, 115 Fat, 109, 115, 121, 132 Femoral, 17, 115 Femur, 33, 115 Fetal Alcohol Syndrome, 76, 115 Fetal Development, 116, 124 Fetoprotein, 116 Fetus, 9, 105, 108, 116, 128, 134, 135 Fibril, 8, 116 Fibroblast Growth Factor, 5, 9, 10, 12, 13, 20, 21, 29, 39, 40, 45, 48, 52, 72, 116 Fibroblasts, 39, 112, 116 Fibrosis, 87, 116, 130 Fibula, 21, 116 Flexion, 116, 120 Folate, 116 Folic Acid, 76, 116 Foramen, 14, 26, 27, 30, 116 Fossa, 45, 116 Frameshift, 8, 116 Frameshift Mutation, 8, 116 G Gait, 4, 102, 116 Gallbladder, 105, 113, 116 Ganglia, 107, 116, 124, 126 Gas, 113, 116, 118, 130, 135 Gas exchange, 116, 130 Gastrin, 117, 118 Gene Expression, 8, 87, 117 Genetic testing, 34, 67, 117, 127 Genotype, 11, 24, 26, 28, 42, 43, 47, 58, 117, 126 Germ Cells, 117, 122, 132 Germ Layers, 108, 117 Gestation, 54, 117, 126 Gland, 117, 121, 125, 126, 127, 128, 130, 132, 134 Glucose, 86, 117, 118 Glutamic Acid, 116, 117, 128 Glycosaminoglycan, 110, 117 Glycosylation, 34, 117 Governing Board, 117, 128 Granulocytes, 117, 131 Grasses, 116, 117 Growth Plate, 6, 31, 117 Gynaecological, 46, 117 H Haptens, 105, 117 Health Status, 27, 118 Hemoglobin, 106, 115, 118

139

Hemoglobinuria, 86, 118 Hemorrhage, 34, 45, 118, 132 Hereditary, 8, 72, 118, 130 Heredity, 117, 118 Heterogeneity, 4, 23, 105, 118 Heterozygotes, 54, 118 Homologous, 105, 112, 118, 130, 133 Hormonal, 107, 118 Hormone, 24, 26, 29, 30, 38, 40, 44, 48, 51, 58, 72, 113, 114, 115, 117, 118, 131, 134 Hormone therapy, 24, 29, 30, 58, 72, 118 Host, 107, 116, 118 Human growth hormone, 30, 32, 49, 58, 59, 118 Humeral, 17, 118 Humoral, 118, 133 Hybrid, 8, 118 Hydrogen, 108, 109, 113, 118, 123 Hydrophobic, 5, 119 Hydroxylysine, 111, 119 Hydroxyproline, 111, 119 Hypertension, 33, 119 Hypoplasia, 37, 62, 72, 119, 124 Hypothalamic, 24, 58, 119 Hypothalamus, 119, 127 Hypothyroidism, 76, 119 Hypotonia, 14, 101, 119 I Id, 59, 62, 92, 98, 100, 119 Immune system, 119, 122 Immunodeficiency, 86, 119 Immunoglobulin, 5, 119 Immunology, 105, 119 Impairment, 45, 107, 119, 122, 123 In situ, 11, 119 In vitro, 5, 8, 9, 11, 119, 127, 134 In vivo, 5, 9, 11, 119 Incision, 109, 119 Indicative, 77, 119, 126 Induction, 9, 119 Infancy, 31, 61, 119, 120 Infantile, 14, 120 Infarction, 112, 120, 123 Infection, 107, 119, 120, 121, 122 Inflammation, 116, 120 Initiation, 7, 8, 11, 120 Insight, 5, 120 Intestinal, 109, 120, 122 Intestines, 105, 107, 120 Intracellular, 6, 120, 131 Intracranial Pressure, 32, 120 Intrinsic, 105, 108, 120

140

Achondroplasia

Involuntary, 107, 115, 120, 124 Ions, 108, 109, 114, 118, 120 Ischemia, 107, 120 Isoenzyme, 112, 120 J Joint, 4, 22, 28, 29, 31, 44, 72, 107, 113, 120, 125, 133 K Kb, 82, 120 Kidney Disease, 45, 69, 82, 87, 120, 130 Kyphosis, 35, 46, 53, 120 L Large Intestine, 113, 120, 129, 131 Laryngoscopy, 33, 121 Larynx, 121 Latent, 5, 121 Lens, 10, 109, 112, 121 Lesion, 121 Lethargy, 119, 121 Leukemia, 8, 18, 86, 121 Library Services, 98, 121 Ligament, 121, 128 Linkage, 4, 28, 37, 121 Lipomatosis, 14, 121 Liposarcoma, 8, 121 Liver, 105, 113, 116, 121 Liver cancer, 105, 121 Lobe, 118, 121 Localization, 37, 41, 121 Localized, 120, 121, 127 Loop, 8, 121 Lumbar, 28, 35, 40, 51, 53, 121 Lymph, 110, 114, 121 Lymph node, 110, 121 Lymphatic, 120, 121, 123, 132 Lymphocyte, 107, 121, 122 Lymphoid, 122 Lymphoma, 86, 122 Lysine, 119, 122, 128 M Malabsorption, 86, 122 Malformation, 45, 122 Malignancy, 105, 122 Malignant, 86, 121, 122 Malnutrition, 107, 122, 123 Mediate, 10, 122 Mediator, 7, 122 MEDLINE, 83, 85, 87, 122 Megakaryocytes, 122, 133 Megaloblastic, 116, 122 Meiosis, 7, 122, 133 Melanin, 122, 126, 134

Melanocytes, 122 Melanoma, 86, 122 Melanosis, 105, 122 Membrane, 5, 106, 111, 113, 121, 122, 130, 131 Mental deficiency, 115, 122 Mental Disorders, 69, 122 Mental Health, iv, 3, 69, 82, 84, 122, 129 Mental Retardation, 10, 88, 123 Mesenchymal, 10, 123 Metatarsal Bones, 11, 123 Metatarsus, 123 MI, 102, 123 Microorganism, 111, 123, 135 Microscopy, 8, 11, 108, 123 Midwifery, 75, 123 Migration, 9, 123 Mitosis, 107, 123 Mitotic, 7, 123 Modification, 123, 129 Molecular, 4, 5, 9, 10, 11, 13, 15, 20, 37, 38, 39, 47, 52, 54, 58, 83, 85, 108, 109, 111, 123 Molecule, 107, 108, 110, 111, 114, 117, 123, 127, 128, 129, 131, 135 Morphogenesis, 10, 115, 123 Morphological, 114, 122, 123 Mosaicism, 28, 29, 39, 123 Muscle Fibers, 123 Muscular Atrophy, 86, 123 Muscular Dystrophies, 114, 123 Mutagenic, 8, 123 Mutagens, 116, 124 Myocardium, 123, 124 Myotonic Dystrophy, 86, 124 N Nail-Patella Syndrome, 14, 124 Natural selection, 108, 124 NCI, 1, 68, 81, 110, 124 Necrosis, 107, 120, 123, 124 Need, 67, 75, 77, 93, 110, 124 Neonatal, 124, 133 Neonatal period, 124, 133 Neoplasia, 86, 124 Neoplastic, 122, 124 Nephropathy, 120, 124 Nerve, 106, 107, 122, 124, 125, 128, 130, 132, 134 Nervous System, 4, 24, 32, 51, 53, 86, 110, 122, 124, 126 Neural, 76, 114, 116, 118, 124 Neural tube defects, 76, 116, 124

Index

Neuralgia, 54, 124 Neurologic, 19, 41, 114, 124 Neurology, 18, 22, 34, 41, 54, 62, 124 Nuclear, 107, 115, 124, 125 Nuclear Family, 115, 125 Nucleus, 9, 107, 110, 113, 122, 125, 132, 133 O Occupational Therapy, 78, 125 Oncogene, 86, 125 Opacity, 109, 113, 125 Opsin, 125, 130 Optic Disk, 125, 126 Organ Culture, 10, 125, 134 Osseointegration, 108, 125 Ossification, 55, 125 Osteoarthritis, 8, 125 Osteoblasts, 10, 125 Osteochondrodysplasias, 11, 125 Osteogenesis, 18, 24, 29, 34, 76, 108, 110, 125 Osteogenesis Imperfecta, 18, 24, 34, 76, 125 Ovum, 117, 125, 135 P Palsy, 25, 125 Pancreas, 105, 113, 125, 126 Pancreatic, 86, 125, 126 Pancreatic cancer, 86, 126 Papilledema, 53, 126 Paroxysmal, 86, 126 Particle, 126, 134 Patella, 124, 126 Paternal Age, 12, 24, 52, 126 Pathogenesis, 6, 8, 10, 11, 36, 126 Pathologic, 107, 112, 126 Pathologic Processes, 107, 126 Pathophysiology, 10, 32, 126 Patient Selection, 35, 126 Pelvic, 14, 126, 128 Peptide, 116, 126, 127, 128, 134 Perforation, 116, 126 Perinatal, 54, 126 Peripheral Nervous System, 125, 126, 133 Pharmacologic, 106, 126, 134 Phenotype, 4, 5, 8, 10, 11, 14, 26, 27, 28, 38, 43, 47, 126 Phenylalanine, 126, 134 Phospholipases, 126, 131 Phosphorus, 109, 126 Physical Examination, 4, 126 Physical Therapy, 78, 126 Physiologic, 108, 116, 127, 129

141

Physiology, 5, 127 Pigment, 122, 127 Pituitary Gland, 116, 127 Plants, 117, 127 Platelet Activation, 127, 131 Platinum, 121, 127 Point Mutation, 6, 21, 127 Polycystic, 45, 87, 127 Polymerase, 46, 127 Polymerase Chain Reaction, 46, 127 Polymorphic, 4, 127 Polypeptide, 105, 106, 111, 127, 128, 135 Polysaccharide, 107, 117, 127, 128 Posterior, 45, 107, 114, 125, 127 Postnatal, 21, 115, 128, 132 Postsynaptic, 128, 131 Potentiation, 128, 131 Practice Guidelines, 84, 128 Precursor, 110, 114, 126, 128, 134 Prenatal, 21, 25, 26, 34, 37, 38, 46, 50, 54, 67, 76, 114, 115, 128 Prenatal Diagnosis, 21, 25, 26, 34, 37, 38, 50, 54, 128 Prevalence, 17, 128 Procollagen, 8, 42, 128 Progression, 11, 106, 128 Progressive, 109, 110, 117, 123, 124, 125, 127, 128 Proline, 111, 119, 128 Prostate, 86, 128 Protein C, 39, 106, 107, 128 Protein S, 77, 87, 108, 118, 128 Proteins, 5, 8, 10, 11, 19, 106, 107, 110, 111, 112, 117, 123, 126, 128, 129, 131 Proteoglycan, 58, 128 Proximal, 102, 114, 128 Public Health, 20, 49, 50, 84, 128 Public Policy, 83, 129 Publishing, 12, 75, 78, 92, 129 Pulmonary, 37, 49, 108, 129 Pulmonary hypertension, 37, 49, 129 Q Quality of Life, 37, 67, 129 R Race, 123, 129 Radiological, 10, 129 Radiology, 13, 14, 16, 20, 32, 45, 47, 129 Reactive Oxygen Species, 8, 129 Receptor, 5, 6, 9, 10, 12, 13, 20, 21, 26, 29, 39, 40, 45, 48, 52, 72, 107, 115, 129, 131 Recombinant, 49, 59, 129, 135 Recombination, 7, 129

142

Achondroplasia

Rectum, 107, 108, 113, 116, 120, 128, 129 Recurrence, 25, 28, 48, 129 Red Nucleus, 107, 129 Refer, 1, 111, 121, 125, 129 Refraction, 129, 132 Regeneration, 6, 116, 129 Remission, 129 Renal cysts, 47, 130 Renal Osteodystrophy, 19, 130 Respiration, 107, 130 Respiratory failure, 13, 130 Restoration, 126, 130, 135 Retina, 112, 121, 130 Retinal, 21, 125, 130 Retinoblastoma, 8, 86, 130 Retinol, 130 Rigidity, 120, 127, 130 Rod, 21, 130 S Salivary, 113, 126, 130 Salivary glands, 113, 130 Sclerae, 125, 130 Sclerosis, 86, 130 Screening, 37, 43, 76, 110, 130 Secretion, 44, 48, 114, 119, 130, 131 Segregation, 129, 130 Seizures, 126, 130 Self-Help Groups, 76, 78, 131 Semen, 128, 131 Senescence, 6, 131 Sensibility, 106, 131 Sequencing, 127, 131 Serum, 24, 36, 76, 111, 112, 131 Sex Determination, 87, 131 Signal Transduction, 6, 9, 11, 131 Skeletal, 4, 5, 6, 9, 10, 14, 15, 35, 48, 49, 52, 78, 102, 112, 114, 119, 123, 131, 133 Skeleton, 77, 115, 120, 131 Skull, 5, 53, 114, 120, 124, 131, 133 Sleep apnea, 43, 44, 48, 54, 131 Small intestine, 118, 120, 131 Social Environment, 129, 131 Social Support, 67, 131 Soft tissue, 24, 131, 132 Solid tumor, 106, 132 Soma, 132 Somatic, 28, 118, 122, 123, 126, 132 Somatic cells, 122, 123, 132 Specialist, 93, 132 Species, 115, 118, 122, 123, 129, 132, 134, 135 Specificity, 105, 132

Spectrum, 4, 23, 132 Speech pathologist, 78, 132 Sperm, 7, 12, 52, 110, 132 Spina bifida, 124, 132 Spinal cord, 108, 110, 124, 126, 132 Spinal Stenosis, 19, 25, 28, 132 Sporadic, 27, 40, 48, 72, 130, 132 Stem Cells, 10, 132 Stimulus, 115, 132, 133 Stomach, 105, 113, 115, 117, 118, 120, 131, 132 Strand, 8, 127, 132 Stress, 8, 132 Stroke, 69, 82, 132 Substance P, 130, 133 Support group, 78, 133 Symphysis, 128, 133 Synaptic, 131, 133 Systolic, 119, 133 T Tarsal Bones, 123, 133 Telangiectasia, 87, 133 Temporal, 22, 30, 133 Thalamic, 107, 133 Thalamic Diseases, 107, 133 Thanatophoric Dysplasia, 5, 15, 18, 21, 24, 29, 38, 39, 40, 43, 133 Thermal, 114, 127, 133 Thigh, 115, 133 Thorax, 121, 133 Threshold, 119, 133 Thrombin, 128, 133 Thrombocytopenia, 24, 133 Thrombomodulin, 128, 133 Thrombopoietin, 24, 133 Thrombosis, 128, 132, 134 Thyroid, 119, 134 Thyrotropin, 119, 134 Tissue Culture, 9, 134 Tomography, 134 Toxic, iv, 114, 117, 134 Toxicology, 84, 134 Transduction, 6, 131, 134 Transfection, 108, 134 Transferases, 117, 134 Translocation, 9, 134 Transmitter, 122, 134 Transplantation, 18, 110, 134 Tryptophan, 111, 134 Tuberous Sclerosis, 87, 134 Tyrosine, 5, 9, 134

Index

U Umbilical Cord, 134 Umbilicus, 55, 134 Unconscious, 119, 134 Urethra, 128, 135 Urine, 55, 108, 112, 118, 135 Uterus, 110, 116, 135 V Vagina, 110, 113, 135 VE, 53, 135 Vector, 134, 135 Veins, 108, 135 Venous, 33, 128, 135 Ventral, 5, 119, 135 Veterinary Medicine, 83, 135 Viral, 134, 135

Virus, 107, 134, 135 Viscera, 132, 135 Vitro, 8, 11, 135 Vivo, 9, 11, 135 W War, 135 Wound Healing, 116, 135 X Xenograft, 106, 135 X-ray, 72, 102, 112, 125, 129, 135 Y Yeasts, 126, 135 Z Zygote, 112, 123, 135 Zymogen, 128, 135

143

144

Achondroplasia